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Previous release (v1)
2024-04-27 16:48:04, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001270451 1133 bp mRNA linear PRI 21-NOV-2023
DEFINITION Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript
variant 6, mRNA.
ACCESSION NM_001270451
VERSION NM_001270451.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1133)
AUTHORS Wang Y, Liu X, Wang M, Wang Y, Wang S, Jin L, Liu M, Zhou J and
Chen Y.
TITLE UBE3B promotes breast cancer progression by antagonizing HIF-2alpha
degradation
JOURNAL Oncogene 42 (46), 3394-3406 (2023)
PUBMED 37783786
REMARK GeneRIF: UBE3B promotes breast cancer progression by antagonizing
HIF-2alpha degradation.
REFERENCE 2 (bases 1 to 1133)
AUTHORS Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui
B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y
and Hu ZW.
TITLE TRIB3 promotes MYC-associated lymphoma development through
suppression of UBE3B-mediated MYC degradation
JOURNAL Nat Commun 11 (1), 6316 (2020)
PUBMED 33298911
REMARK GeneRIF: TRIB3 promotes MYC-associated lymphoma development through
suppression of UBE3B-mediated MYC degradation.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 1133)
AUTHORS Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat
EA, El Saeidi SA, Aglan MS, Temtamy S and Abdel-Hamid MS.
TITLE Blepharophimosis-ptosis-intellectual disability syndrome: A report
of nine Egyptian patients with further expansion of phenotypic and
mutational spectrum
JOURNAL Am J Med Genet A 182 (12), 2857-2866 (2020)
PUBMED 32949109
REMARK GeneRIF: Blepharophimosis-ptosis-intellectual disability syndrome:
A report of nine Egyptian patients with further expansion of
phenotypic and mutational spectrum.
REFERENCE 4 (bases 1 to 1133)
AUTHORS Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M,
Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L and Borck G.
TITLE Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and
clinical features in four unrelated patients
JOURNAL Am J Med Genet A 176 (1), 187-193 (2018)
PUBMED 29160006
REMARK GeneRIF: we present four patients with five novel UBE3B mutations
and propose the inclusion of clinical features to the
characteristics of Kaufman oculocerebrofacial syndrome, including
prominence of the cheeks and limb anomalies.
REFERENCE 5 (bases 1 to 1133)
AUTHORS Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A,
Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC and Campeau
PM.
TITLE Kaufman oculo-cerebro-facial syndrome in a child with small and
absent terminal phalanges and absent nails
JOURNAL J Hum Genet 62 (4), 465-471 (2017)
PUBMED 28003643
REMARK GeneRIF: Sanger sequencing was negative for the DOORS syndrome gene
TBC1D24 but exome sequencing identified a homozygous deletion in
UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the
terminal portion of the HECT domain
REFERENCE 6 (bases 1 to 1133)
AUTHORS Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N,
Schreiber S, Backofen R and Platzer M.
TITLE Violating the splicing rules: TG dinucleotides function as
alternative 3' splice sites in U2-dependent introns
JOURNAL Genome Biol 8 (8), R154 (2007)
PUBMED 17672918
REMARK GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
intron 25 is discussed
REFERENCE 7 (bases 1 to 1133)
AUTHORS Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
TITLE A germline-specific class of small RNAs binds mammalian Piwi
proteins
JOURNAL Nature 442 (7099), 199-202 (2006)
PUBMED 16751776
REFERENCE 8 (bases 1 to 1133)
AUTHORS Gong TW, Huang L, Warner SJ and Lomax MI.
TITLE Characterization of the human UBE3B gene: structure, expression,
evolution, and alternative splicing
JOURNAL Genomics 82 (2), 143-152 (2003)
PUBMED 12837265
REMARK GeneRIF: UBE3B is a novel E3 ligase, with a HECT-domain which
constitutes the active site for ubiquitin transfer
REFERENCE 9 (bases 1 to 1133)
AUTHORS Lomax MI, Gong TW, Cho Y, Huang L, Oh SH, Adler HJ, Raphael Y and
Altschuler RA.
TITLE Differential Gene Expression Following Noise Trauma in Birds and
Mammals
JOURNAL Noise Health 3 (11), 19-35 (2001)
PUBMED 12689446
REFERENCE 10 (bases 1 to 1133)
AUTHORS Lomax MI, Huang L, Cho Y, Gong TL and Altschuler RA.
TITLE Differential display and gene arrays to examine auditory plasticity
JOURNAL Hear Res 147 (1-2), 293-302 (2000)
PUBMED 10962193
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA771082.1, BC068221.1 and
BC108705.1.
On Aug 14, 2020 this sequence version replaced NM_001270451.1.
Summary: The modification of proteins with ubiquitin is an
important cellular mechanism for targeting abnormal or short-lived
proteins for degradation. Ubiquitination involves at least three
classes of enzymes: E1 ubiquitin-activating enzymes, E2
ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases.
This gene encodes a member of the E3 ubiquitin-conjugating enzyme
family which accepts ubiquitin from an E2 ubiquitin-conjugating
enzyme and transfers the ubiquitin to the targeted substrates. A
HECT (homology to E6-AP C-terminus) domain in the C-terminus of the
longer isoform of this protein is the catalytic site of ubiquitin
transfer and forms a complex with E2 conjugases. Shorter isoforms
of this protein which lack the C-terminal HECT domain are therefore
unlikely to bind E2 enzymes. Alternatively spliced transcript
variants encoding distinct isoforms have been identified for this
gene. [provided by RefSeq, Jul 2012].
Transcript Variant: This variant (6) uses an alternate splice site
in the 5' UTR and contains an alternate 3' exon, compared to
variant 1. These differences result in a distinct 3' UTR and 3'
coding region and a protein (isoform 3) with a shorter and distinct
C-terminus, compared to isoform 1. Variants 4-6 encode the same
protein (isoform 3).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC068221.1, BQ928951.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1968968
[ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-19 DA771082.1 12-30
20-1050 BC068221.1 1-1031
1051-1133 BC108705.1 1026-1108
FEATURES Location/Qualifiers
source 1..1133
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q24.11"
gene 1..1133
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="ubiquitin protein ligase E3B"
/db_xref="GeneID:89910"
/db_xref="HGNC:HGNC:13478"
/db_xref="MIM:608047"
exon 1..143
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 1
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:901371626"
variation 2..3
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:1245813444"
variation 3
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1592856872"
variation 4
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1042787717"
variation 5
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1592856902"
variation 6
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1400996089"
variation 7
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874507794"
variation 8
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:906514083"
variation 9
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:930143553"
variation 10..13
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="gggg"
/replace="ggggg"
/db_xref="dbSNP:1428656275"
variation 14
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="c"
/db_xref="dbSNP:1448301261"
variation 16
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1355561958"
variation 17
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1266047914"
variation 18
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1592856979"
variation 20
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874511808"
variation 22
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1047241162"
variation 24
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1297097951"
variation 25
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:888202092"
variation 28
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:895227917"
variation 29
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:573096712"
variation 30
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1005716533"
variation 31
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1874515126"
variation 33
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1017019186"
variation 36
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1392069182"
variation 37
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1874516423"
variation 39
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1165578672"
variation 41
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1458967273"
variation 42
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:961614980"
variation 43
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:994401488"
variation 44
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:373859718"
variation 45
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1005269430"
variation 46
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:2135706362"
variation 49
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592857120"
variation 50
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1874520259"
variation 54
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1026417924"
variation 55
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:59975102"
variation 56
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1211603334"
variation 57
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1592857169"
variation 59
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874523002"
variation 60
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874523498"
variation 61
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1340107488"
variation 62
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:904853464"
variation 63
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1436757853"
variation 65
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592857196"
variation 73
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:771191233"
variation 74
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:573548033"
variation 75
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:910336362"
variation 76
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1344603035"
variation 80
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1592857243"
variation 81..83
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="agt"
/replace="agtagt"
/db_xref="dbSNP:1360286865"
variation 81
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874527484"
variation 86
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874528337"
variation 88
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1214388503"
variation 89
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:2135706828"
variation 90
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1274273859"
variation 92
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1320650971"
variation 93
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874530372"
variation 95..98
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="cccc"
/replace="ccccc"
/db_xref="dbSNP:1874530828"
variation 96
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874531252"
variation 98
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874531675"
variation 102
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1592857305"
variation 105
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:191799657"
variation 107
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1874532915"
variation 109
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874533362"
variation 111
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874533897"
variation 114
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1436203465"
variation 116
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1003484059"
variation 119
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1326086174"
variation 120
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1874535733"
variation 121
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1874536171"
variation 130
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1390189715"
variation 131
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1272626414"
variation 132
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:28384415"
variation 134
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1429928715"
variation 136
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874539018"
variation 137
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1170515164"
variation 142
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874540561"
variation 143
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1874541107"
exon 144..249
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 144..149
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="aaaaaa"
/replace="aaaaaaa"
/db_xref="dbSNP:1875453292"
variation 146
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875453681"
variation 149
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:927386104"
variation 151..155
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="aa"
/replace="aacaa"
/db_xref="dbSNP:1367772245"
variation 153
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:2135744181"
variation 154
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875455397"
variation 155
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1165435064"
variation 156
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1425562194"
variation 167
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="gggg"
/db_xref="dbSNP:1261140780"
variation 168
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1193110695"
variation 172
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1488735946"
variation 176
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:530940752"
variation 179
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1220685559"
variation 180
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:546293625"
variation 182
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:79330589"
variation 187
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1322942081"
variation 188
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:770448267"
variation 189
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:151208600"
variation 191
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875463035"
variation 193
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:940850624"
variation 194
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875463964"
variation 195
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1376302797"
variation 201
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1029431217"
variation 203
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1384825128"
variation 205
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1040677512"
variation 209
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875466300"
variation 210
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:953345019"
variation 211..215
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="tgatt"
/replace="tgattgatt"
/db_xref="dbSNP:1293980530"
misc_feature 211..213
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="upstream in-frame stop codon"
variation 211
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1459366193"
variation 215
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875468773"
variation 217
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1421472469"
variation 218
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1592868208"
variation 219
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1170016640"
variation 222
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875470485"
variation 224
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1875470833"
variation 230
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:987438951"
variation 231
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1019222913"
variation 236
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1312922338"
variation 239
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1592868251"
variation 240
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1875473245"
variation 241
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:543577405"
variation 243
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592868277"
variation 245
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875474840"
variation 247
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875475259"
variation 249
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1451330451"
exon 250..431
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 250
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875840198"
variation 251
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:981792778"
variation 258
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875840993"
variation 260
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1875841352"
variation 261..275
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="gtt"
/replace="gtttgcaaacatgtt"
/db_xref="dbSNP:749669361"
variation 269
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:913478208"
CDS 271..1005
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/EC_number="2.3.2.26"
/note="isoform 3 is encoded by transcript variant 6;
HECT-type ubiquitin transferase E3B"
/codon_start=1
/product="ubiquitin-protein ligase E3B isoform 3"
/protein_id="NP_001257380.1"
/db_xref="CCDS:CCDS58277.1"
/db_xref="GeneID:89910"
/db_xref="HGNC:HGNC:13478"
/db_xref="MIM:608047"
/translation="
MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDFFKADDPESTKRSALCIFKIARKLLFLFRIKEDNERFEKLCRSILSSMDAENEPKVWYVSLACSKDLTLLWIQQIKNILWYCCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRGKGESLRPAMNHICANIMGHLNQHGFYSVLQCCDGLFPDLVSYAPHNNPVRWSVGRSWYDWQLSR"
misc_feature 271..273
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="N-acetylmethionine.
/evidence=ECO:0007744|PubMed:22814378; propagated from
UniProtKB/Swiss-Prot (Q7Z3V4.3); acetylation site"
variation 271
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:672601304"
variation 272
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1170712242"
variation 277
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:756283868"
variation 278
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142757108"
variation 280
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1298801773"
variation 281
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1422783452"
variation 284
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:947630776"
variation 285
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1230679297"
variation 290
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875846932"
variation 291
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:574539443"
variation 293
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:749860136"
variation 294
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:757679020"
variation 295
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="aa"
/db_xref="dbSNP:2135760065"
variation 300
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1043652436"
variation 301
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:779284561"
variation 302
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875850206"
variation 306
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1209051926"
variation 307
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875850719"
variation 309
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:141528351"
variation 310
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:771722819"
variation 312
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1197069615"
variation 319
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:556951575"
variation 320
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:746633699"
variation 328
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1158534509"
variation 329
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147402736"
variation 331
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:775981553"
variation 333
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:761850046"
variation 339
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1390527880"
variation 341
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1221536610"
variation 343
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1371996837"
variation 345
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1384686521"
variation 349
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1302906037"
variation 351..352
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1345778773"
variation 354
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:991276875"
variation 355
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:765224973"
variation 356
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372604916"
variation 357
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375632180"
variation 360
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1264619414"
variation 361
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:766274696"
variation 362
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139172208"
variation 369
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875864629"
variation 370
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875865415"
variation 379
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1156839669"
variation 382
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200114053"
variation 385
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:764278999"
variation 386
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:753826150"
variation 391
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:757786448"
variation 392
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201620860"
variation 393
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1160522616"
variation 395
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1487035008"
variation 402
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:376752676"
variation 403
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1211985011"
variation 406
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149953168"
variation 407
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:780380636"
variation 412
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:746722966"
variation 413
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:768162705"
variation 415
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:776234508"
variation 417
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:747561690"
variation 420
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144106525"
variation 422
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1875876266"
variation 424
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:773351206"
variation 425
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:762970554"
variation 426
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1246626895"
variation 428
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:770898948"
variation 430
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1469309911"
variation 431
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1360420097"
exon 432..552
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 433
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:942863566"
variation 440
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200272943"
variation 444
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:770955936"
variation 446
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:774229226"
variation 448
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148696226"
variation 459
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:143536763"
variation 460
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:776782001"
variation 463
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:762004822"
variation 465
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:765346165"
variation 466
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1233510380"
variation 467
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:750469973"
variation 468
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1875918457"
variation 469
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875918945"
variation 471
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:763480991"
variation 472
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1875919992"
variation 474
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1337257519"
variation 475
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200964637"
variation 479
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1875921601"
variation 488
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1432546821"
variation 489
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:113987841"
variation 490
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1364332171"
variation 493
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875924404"
variation 494
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:755365552"
variation 495
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1290597270"
variation 500
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1300637036"
variation 501
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1875926512"
variation 503
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1592874276"
variation 504
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1310564232"
variation 511
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1205668914"
variation 513
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1369649065"
variation 525..526
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="cc"
/db_xref="dbSNP:771222229"
variation 526
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781608135"
variation 532
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:201398969"
variation 536
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:755799083"
variation 543
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1475521028"
variation 550
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1165829529"
variation 552
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:777459573"
exon 553..612
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 554
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592880506"
variation 558
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:140603482"
variation 564
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1244553082"
variation 568
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1222047007"
variation 571
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:766912979"
variation 572
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1199490291"
variation 573
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1410669159"
variation 574
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:144343146"
variation 576
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:774779282"
variation 581
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1876368521"
variation 583..594
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="agcagcatggat"
/db_xref="dbSNP:746624505"
variation 589
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:760065718"
variation 590
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:767814601"
variation 593
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1299963263"
variation 595
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1321363024"
variation 596
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1348349074"
variation 599
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1876371444"
variation 603
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1407069513"
variation 606
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:369331998"
variation 608
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:755856794"
variation 610
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1294421149"
variation 612
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1251727535"
exon 613..717
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 613
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1876447560"
variation 615
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:764690321"
variation 616
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:749905472"
variation 618
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1441740882"
variation 619
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:758290112"
variation 620
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:779906381"
variation 621
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592882265"
variation 622
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:931189064"
variation 627
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1362364657"
variation 635
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:746811263"
variation 637
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1430998068"
variation 642
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1876453382"
variation 645
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876453824"
variation 646
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:151084567"
variation 647
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1389721670"
variation 649
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1876455979"
variation 650
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1460709664"
variation 651
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:555222003"
variation 655
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1299450347"
variation 660
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1876457940"
variation 664
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:2135792403"
variation 667
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:749513015"
variation 671
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1391303373"
variation 672..679
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="ca"
/replace="caagaaca"
/db_xref="dbSNP:1566073964"
variation 672
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:771145796"
variation 673
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1427784978"
variation 674
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1876461074"
variation 675
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1592882536"
variation 677
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:745905368"
variation 678
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1408975587"
variation 680
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1453746049"
variation 681
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1041175607"
variation 682
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1362582364"
variation 683
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:772714100"
variation 684
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:200936935"
variation 689
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141063517"
variation 691
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:777101546"
variation 692
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1876466611"
variation 694
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876467095"
variation 695
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1264855195"
variation 697
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:2135792899"
variation 703..704
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="ctagtttccacttttcttccttttgcattacagga"
/db_xref="dbSNP:776177338"
variation 705
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:544149439"
variation 706
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1198546006"
variation 709
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377462796"
variation 711
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150249985"
variation 712
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:565231353"
variation 713
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:762458401"
variation 714
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1373877171"
variation 715
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:765868498"
variation 717
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:2135793160"
exon 718..814
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 729
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1876900887"
variation 734
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2135817028"
variation 737
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1248965822"
variation 739
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:373717944"
variation 740
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:200429727"
variation 742
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1368293651"
variation 744
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376690658"
variation 745
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1165032738"
variation 749
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:758659249"
variation 751
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:955106594"
variation 752
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="t"
/db_xref="dbSNP:1566076563"
variation 753
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1428464363"
variation 754
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876906026"
variation 759
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876906478"
variation 760
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:2135817370"
variation 761
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:530591049"
variation 762
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:747033125"
variation 763
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:138001412"
variation 764
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:765124542"
variation 766
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1592889402"
variation 769
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:748598136"
variation 772
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:770252181"
variation 773
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:773418865"
variation 774
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876910821"
variation 775
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876911034"
variation 778
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2135817652"
variation 779
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1435666324"
variation 783
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1271829487"
variation 786
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1876913023"
variation 788
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1198932029"
variation 790
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:748971736"
variation 791
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1040342535"
variation 792
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:61739922"
variation 795
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1249759605"
variation 798
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:773867430"
variation 802
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375093429"
variation 805
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200095998"
variation 806
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201692069"
variation 807
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1876917236"
variation 809
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1696902011"
variation 810..813
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="aaa"
/replace="aaaa"
/db_xref="dbSNP:1876917698"
variation 811
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:760512064"
exon 815..900
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 815
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877145151"
variation 820
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1428527485"
variation 821
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:763874814"
variation 826
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1566078009"
variation 827
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199655024"
variation 829
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877147659"
variation 833
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:763884868"
variation 834
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:776578322"
variation 837
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1877149680"
variation 838
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1310221240"
variation 841
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:761632028"
variation 843
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1387693317"
variation 845
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:765118724"
variation 846
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1311385876"
variation 848
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1877152425"
variation 850
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1287292615"
variation 853
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:970102463"
variation 854
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1364356672"
variation 856
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877154321"
variation 859
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1215174225"
variation 861
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1431978694"
variation 862
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1282787828"
variation 865
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:751887905"
variation 866
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1225929423"
variation 868
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1264333476"
variation 872
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:958410473"
variation 874
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:566986756"
variation 877
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877158872"
variation 879
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1214100181"
variation 881
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1012775112"
variation 883
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:767667166"
variation 891
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1190118175"
variation 892
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877161916"
variation 893
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:752671363"
variation 895
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877163172"
variation 896
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1481365359"
variation 897
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:112530776"
variation 898
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:778076862"
variation 900
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1398668360"
exon 901..1133
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/inference="alignment:Splign:2.1.0"
variation 901
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2135837871"
variation 903
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:775634353"
variation 904
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1566078767"
variation 907..908
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="ga"
/replace="gaga"
/db_xref="dbSNP:1877284006"
variation 908
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1378678231"
variation 911
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:976467733"
variation 912
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877285498"
variation 915
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1201536331"
variation 918
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:760931393"
variation 919
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:778266028"
variation 920
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1462807477"
variation 925
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1188450076"
variation 926
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1372753245"
variation 932
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:751875776"
variation 935
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877292643"
variation 936
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1253178562"
variation 943
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1474428308"
variation 945
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1199186905"
variation 946
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169736076"
variation 947
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191026455"
variation 951
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1469798552"
variation 959
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:922246082"
variation 966
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:764202583"
variation 967
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:535697686"
variation 968..969
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1055372414"
variation 973
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:894180590"
variation 974
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1317144361"
variation 975
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1281908003"
variation 976
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1328334317"
variation 980
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1324337071"
variation 981
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1432277913"
variation 985
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1270342228"
variation 987
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:929614264"
variation 988
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:982680639"
variation 991
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877303817"
variation 992..993
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="caacaag"
/db_xref="dbSNP:1877304281"
variation 993
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1877304795"
variation 994
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1592894737"
variation 996
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:753878565"
variation 999
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1264953456"
variation 1000
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1323943636"
variation 1001
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1204334678"
variation 1002
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1037456689"
variation 1003
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877308803"
variation 1004
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1358776568"
variation 1008
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877310383"
variation 1010
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1445553966"
variation 1015
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1420553532"
variation 1017
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1195409897"
variation 1019..1020
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="tt"
/replace="ttt"
/db_xref="dbSNP:2135839446"
variation 1021
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:557273493"
variation 1022
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1480381636"
variation 1025
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877313419"
variation 1026
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:575646965"
regulatory 1030..1035
/regulatory_class="polyA_signal_sequence"
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="hexamer: ATTAAA"
variation 1030
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1432119134"
variation 1036
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:879469434"
variation 1037
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1158414385"
variation 1038
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1382323765"
variation 1039
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045294298"
variation 1042
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1298251722"
variation 1046
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2135839830"
variation 1047
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877317923"
polyA_site 1050
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="major polyA site"
variation 1050
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1344270187"
variation 1052..1057
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="atg"
/replace="atgatg"
/db_xref="dbSNP:1402593971"
variation 1053
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:765671626"
variation 1055
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877320034"
variation 1059
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1592894956"
variation 1060..1062
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="t"
/replace="ttt"
/db_xref="dbSNP:1193838757"
variation 1062
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1374254657"
variation 1064..1071
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="aa"
/replace="aattttaa"
/db_xref="dbSNP:1455941782"
variation 1071
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="c"
/db_xref="dbSNP:890269268"
variation 1075..1076
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="tg"
/replace="tgtg"
/db_xref="dbSNP:1313343045"
variation 1076
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1877323631"
variation 1079
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1162222914"
variation 1083
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:539760131"
variation 1093
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1877325190"
variation 1095
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace=""
/replace="g"
/db_xref="dbSNP:1390990054"
variation 1096..1102
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="ttttttt"
/replace="tttttttt"
/db_xref="dbSNP:1462752921"
variation 1096
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1297662836"
variation 1100
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1008800193"
variation 1108
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:377311778"
regulatory 1112..1117
/regulatory_class="polyA_signal_sequence"
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="hexamer: ATTAAA"
variation 1114
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1017469550"
variation 1117
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1318914990"
variation 1118
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1592895098"
variation 1120
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877329999"
variation 1123
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1161719322"
variation 1130
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1877330907"
polyA_site 1133
/gene="UBE3B"
/gene_synonym="BPIDS; KOS"
/note="major polyA site"
ORIGIN
gaacaccgcggggcaagatggcggtagtgcgtcggctgctgccccgggtctggcagaactcgggtgttttgggctgagacagtggcagctgcggccccgaccccaagtgcggggacctccggcgaataaaggtcggcctgcggaaaaaataacaagcttttctgaagtgagaagctgttctcagccacgagtcctgtgcaagatcactaatgattacctggcatttctgcgacacaggcaggtcctcagggtttgtgcaagtttgcaaacatgttcaccctgtctcagacctcgagagcatggttcatcgatagagcccgtcaggcacgagaagaaaggcttgtgcagaaggaacgggagcgggcagctgttgtgatccaggcccatgtccggagttttctctgtcggagtcgactgcagagagatatcaggagagagattgatgacttttttaaagcagatgaccctgagtccactaaaagaagtgcactttgtattttcaagattgccaggaaactgctgttcctattcagaatcaaagaggataatgagagatttgagaagttgtgtcgcagcatcctgagcagcatggatgctgagaatgagcctaaggtgtggtatgtgtccctggcttgttctaaggacctcaccctcctttggattcaacagatcaagaacattttgtggtactgctgtgattttctcaagcagctcaagcctgaaatcctgcaggactcccgactcatcaccctgtacctcacgatgcttgtcaccttcacagacacttcaacgtggaaaattcttcggggaaaaggtgaaagtcttcgaccagcgatgaaccacatttgtgcaaatataatgggacatctcaaccagcatggattttattctgtgctgcagtgctgtgatgggctgtttcctgatttggtttcatatgctcctcacaacaaccctgtgaggtggtccgttggcagaagctggtatgactggcagttgtctcgctagaggaaccttctacttcataccataattaaacggcttctaaaataatatgatgtctttaaattttaagtctggcattatttgtattagctgtttttttaactttattattaaagaatttctaaccataa
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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