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2024-11-15 00:54:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001518 4406 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens general transcription factor IIi (GTF2I), transcript
variant 4, mRNA.
ACCESSION NM_001518 NM_033003 XM_939506
VERSION NM_001518.3 GI:169881251
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 4406)
AUTHORS Vandeweyer,G., Van der Aa,N., Reyniers,E. and Kooy,R.F.
TITLE The contribution of CLIP2 haploinsufficiency to the clinical
manifestations of the Williams-Beuren syndrome
JOURNAL Am. J. Hum. Genet. 90 (6), 1071-1078 (2012)
PUBMED 22608712
REMARK GeneRIF: CLIP2 haploinsufficiency by itself does not lead to the
physical or cognitive characteristics of the Williams-Beuren
syndrome; GTF2IRD1 and GTF2I are the main genes causing the
cognitive defects
REFERENCE 2 (bases 1 to 4406)
AUTHORS Mervis,C.B., Dida,J., Lam,E., Crawford-Zelli,N.A., Young,E.J.,
Henderson,D.R., Onay,T., Morris,C.A., Woodruff-Borden,J.,
Yeomans,J. and Osborne,L.R.
TITLE Duplication of GTF2I results in separation anxiety in mice and
humans
JOURNAL Am. J. Hum. Genet. 90 (6), 1064-1070 (2012)
PUBMED 22578324
REMARK GeneRIF: GTF2I duplication results in separation anxiety in mice
and humans
REFERENCE 3 (bases 1 to 4406)
AUTHORS Letavernier,E., Rodenas,A., Guerrot,D. and Haymann,J.P.
TITLE Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator
in calcium homeostasis?
JOURNAL Pediatrics 129 (6), E1626-E1630 (2012)
PUBMED 22566418
REMARK GeneRIF: TFII-I gene deletion may explain the Williams-Beuren
syndrome phenotype because it acts as a negative regulator of TRPC3
expression in human B lymphocytes.
REFERENCE 4 (bases 1 to 4406)
AUTHORS Makeyev,A.V. and Bayarsaihan,D.
TITLE Alternative splicing and promoter use in TFII-I genes
JOURNAL Gene 433 (1-2), 16-25 (2009)
PUBMED 19111598
REMARK GeneRIF: analyzed promoter regions of TFII-I genes and described
their additional exons, as well as tested tissue specificity of
both previously reported and novel alternatively spliced isoforms
REFERENCE 5 (bases 1 to 4406)
AUTHORS Cheriyath,V. and Roy,A.L.
TITLE Alternatively spliced isoforms of TFII-I. Complex formation,
nuclear translocation, and differential gene regulation
JOURNAL J. Biol. Chem. 275 (34), 26300-26308 (2000)
PUBMED 10854432
REFERENCE 6 (bases 1 to 4406)
AUTHORS Roy,A.L., Du,H., Gregor,P.D., Novina,C.D., Martinez,E. and
Roeder,R.G.
TITLE Cloning of an inr- and E-box-binding protein, TFII-I, that
interacts physically and functionally with USF1
JOURNAL EMBO J. 16 (23), 7091-7104 (1997)
PUBMED 9384587
REFERENCE 7 (bases 1 to 4406)
AUTHORS Grueneberg,D.A., Henry,R.W., Brauer,A., Novina,C.D., Cheriyath,V.,
Roy,A.L. and Gilman,M.
TITLE A multifunctional DNA-binding protein that promotes the formation
of serum response factor/homeodomain complexes: identity to TFII-I
JOURNAL Genes Dev. 11 (19), 2482-2493 (1997)
PUBMED 9334314
REFERENCE 8 (bases 1 to 4406)
AUTHORS Yang,W. and Desiderio,S.
TITLE BAP-135, a target for Bruton's tyrosine kinase in response to B
cell receptor engagement
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (2), 604-609 (1997)
PUBMED 9012831
REFERENCE 9 (bases 1 to 4406)
AUTHORS Roy,A.L., Carruthers,C., Gutjahr,T. and Roeder,R.G.
TITLE Direct role for Myc in transcription initiation mediated by
interactions with TFII-I
JOURNAL Nature 365 (6444), 359-361 (1993)
PUBMED 8377829
REFERENCE 10 (bases 1 to 4406)
AUTHORS Roy,A.L., Meisterernst,M., Pognonec,P. and Roeder,R.G.
TITLE Cooperative interaction of an initiator-binding transcription
initiation factor and the helix-loop-helix activator USF
JOURNAL Nature 354 (6350), 245-248 (1991)
PUBMED 1961251
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF015553.1, AF038969.1,
BC070484.1 and AC083884.6.
On Mar 14, 2008 this sequence version replaced gi:14670355.
Summary: This gene encodes a multifunctional phosphoprotein with
roles in transcription and signal transduction. It is deleted in
Williams-Beuren syndrome, a multisystem developmental disorder
caused by the deletion of contiguous genes at chromosome 7q11.23.
Alternative splicing results in multiple transcript variants.
Related pseudogenes have been identified on chromosomes 7, 13 and
21. [provided by RefSeq, Jul 2009].
Transcript Variant: This variant (4) lacks exons 9 and 11, as
compared to variant 1. The resulting reading frame is not changed,
however, this variant encodes an isoform (4) which lacks 2 internal
segments comprising 20 aa and 21 aa respectively, compared to
isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
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 :: AF015553.1, BC070484.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-54 AF015553.1 1-54
55-1929 AF038969.1 1-1875
1930-3538 BC070484.1 1912-3520
3539-4406 AC083884.6 82431-83298
FEATURES Location/Qualifiers
source 1..4406
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q11.23"
gene 1..4406
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="general transcription factor IIi"
/db_xref="GeneID:2969"
/db_xref="HGNC:4659"
/db_xref="MIM:601679"
exon 1..365
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
misc_feature 14..16
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="upstream in-frame stop codon"
variation 133
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="c"
/db_xref="dbSNP:146380720"
variation 179
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:62475396"
exon 366..469
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
CDS 371..3244
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="isoform 4 is encoded by transcript variant 4;
BTK-associated protein, 135kD; Bruton tyrosine
kinase-associated protein 135; general transcription
factor II-I; SRF-Phox1-interacting protein;
Williams-Beuren syndrome chromosome region 6;
BTK-associated protein 135; williams-Beuren syndrome
chromosomal region 6 protein"
/codon_start=1
/product="general transcription factor II-I isoform 4"
/protein_id="NP_001509.3"
/db_xref="GI:169881252"
/db_xref="CCDS:CCDS47614.1"
/db_xref="GeneID:2969"
/db_xref="HGNC:4659"
/db_xref="MIM:601679"
/translation="
MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGISFIIKRPFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPTEDSGISLEMAAVTVKEESEDPDYYQYNIQGSHHSSEGNEGTEMEVPAEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITDLRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLERILLAKERIRFVIKKHELLNSTREDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAEALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKRPELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVFESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKKPELVISYLPPGMASKINTKALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW
"
misc_feature 704..931
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
misc_feature 1328..1555
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
misc_feature 1643..1870
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
misc_feature 1958..2185
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
misc_feature 2444..2671
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
misc_feature 2849..3076
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/note="GTF2I-like repeat; Region: GTF2I; pfam02946"
/db_xref="CDD:145872"
variation 380
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:59878305"
variation 400..401
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:9722035"
variation 400
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:142138701"
variation 421
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:146689774"
variation 428
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="c"
/db_xref="dbSNP:373523357"
variation 436
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:139725334"
variation 447..450
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:77631940"
variation 460
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:377650658"
variation 462..463
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:75122242"
exon 470..608
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 495
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:201580003"
variation 496
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:182296203"
variation 517
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:144420417"
variation 530
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:368759932"
variation 541
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:369679525"
variation 580
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:146598910"
variation 589
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:143931854"
exon 609..743
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 611
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:200063075"
variation 726
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:150259949"
exon 744..927
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 797
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1064765"
variation 798
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:145729076"
variation 808
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:190779878"
variation 832
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:368452418"
variation 856
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:148927442"
variation 890
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:1057896"
variation 903
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:1135648"
exon 928..956
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 952
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:147069558"
exon 957..1011
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 959
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:373330111"
variation 963
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:202085514"
variation 979
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:138377665"
variation 990
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:368674948"
exon 1012..1055
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 1056..1133
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1059
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:143885919"
variation 1078
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:111506941"
variation 1121
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:199687489"
exon 1134..1190
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1156
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:374424412"
variation 1159
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:367846325"
variation 1164..1165
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="t"
/db_xref="dbSNP:78127724"
exon 1191..1301
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 1302..1367
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 1368..1551
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1393
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057900"
variation 1405
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:148023732"
variation 1418
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1614448"
exon 1552..1610
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1566
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135649"
variation 1567
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:367969358"
exon 1611..1682
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1642
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:113946168"
exon 1683..1866
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 1867..1925
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 1904
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:141809495"
exon 1926..1997
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 1998..2181
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 2006
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200729390"
variation 2010
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:111781141"
variation 2068
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:2539024"
variation 2068
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="g"
/db_xref="dbSNP:201985028"
variation 2144
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:139477988"
variation 2148
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057905"
exon 2182..2240
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 2241..2315
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 2316..2417
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 2367
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:200224470"
variation 2371
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802134"
exon 2418..2483
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 2437
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:11547813"
exon 2484..2667
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 2668..2723
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 2724..2804
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 2805..2888
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 2869
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1135671"
variation 2869
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373607978"
exon 2889..3072
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 2962
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:707429"
variation 2962
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:200523538"
variation 3061
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:3198526"
exon 3073..3101
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
exon 3102..3143
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 3123
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:373687583"
variation 3125
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="g"
/db_xref="dbSNP:1637387"
exon 3144..3185
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 3171
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:113065632"
exon 3186..3261
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 3257
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:142626199"
variation 3258
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="t"
/db_xref="dbSNP:2069301"
variation 3258
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="t"
/db_xref="dbSNP:11547818"
exon 3262..4406
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/inference="alignment:Splign:1.39.8"
variation 3335
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802133"
STS 3436..3561
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="D7S2071E"
/db_xref="UniSTS:9240"
STS 3460..3594
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="G31029"
/db_xref="UniSTS:62409"
STS 3486..3565
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="D7S2123E"
/db_xref="UniSTS:848"
STS 3494..3740
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="IB386"
/db_xref="UniSTS:14452"
variation 3539
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:6947"
variation 3539
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="g"
/replace="t"
/db_xref="dbSNP:200903481"
variation 3576
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="c"
/replace="t"
/db_xref="dbSNP:11513"
variation 3809
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="t"
/db_xref="dbSNP:12095"
STS 4066..4251
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="IB291"
/db_xref="UniSTS:64433"
STS 4116..4330
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/standard_name="G33157"
/db_xref="UniSTS:60071"
variation 4286
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
/replace="a"
/replace="c"
/db_xref="dbSNP:1064769"
polyA_signal 4375..4380
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
polyA_site 4406
/gene="GTF2I"
/gene_synonym="BAP135; BTKAP1; DIWS; GTFII-I; IB291; SPIN;
TFII-I; WBS; WBSCR6"
ORIGIN
aggaggaggagggtgagagagaagctgggagagcagagaaaaggggccaccggtcgcccccccgcttccccgcacgcgctctccagccgcggccgcccgcctgccgcggtcaccccggcctctgcctctgtcccccagtgatcggatcaaggcgctgagcgaggccctgcctgcggggcggccatgcggcggtgacaggagcgcgaccgacacgcacgggcccctcgccccctctcgcctcccgtccgctcgccagctcccctcagccgaggctgctccgcggcggccgcagcccgcgcgcggcccacactcgcctcccctcggcacccccggccccggagctgcctggaggcggccgcactcggggatcatggcccaagttgcaatgtccaccctccccgttgaagatgaggagtcctcggagagcaggatggtggtgacattcctcatgtcagctctcgagtccatgtgtaaagaactggccaagtccaaagccgaagtggcctgcattgcagtgtatgaaacagacgtgtttgtcgtcggaactgaaagaggacgtgcttttgtcaataccagaaaggattttcaaaaagattttgtaaaatattgtgttgaagaagaagaaaaagctgcagagatgcataaaatgaaatctacaacccaggcaaatcggatgagtgtagatgctgtagaaattgaaacactcagaaaaacagttgaggactatttctgcttttgctatgggaaagctttaggcaaatccacagtggtacctgtaccatatgagaagatgctgcgagaccagtcggctgtggtagtgcaggggcttccggaaggtgttgcctttaaacaccccgagaactatgatcttgcaaccctgaaatggattttggagaacaaagcagggatttcattcatcattaagagaccttttttagagccaaagaagcatgtaggtggtcgtgtgatggtaacagatgctgacaggtcaatactatctccaggtggaagttgtggccccatcaaagtgaaaactgaacccacagaagattctggcatttccctggaaatggcagctgtgacagtaaaggaagaatcagaagatcctgattattatcaatataacattcaaggaagccaccattcttcagagggcaatgaaggcacagaaatggaagtaccagcagaagatgatgattattctccaccgtctaagagaccaaaggccaatgagctaccgcagccaccagtcccggaacccgccaatgctgggaagcggaaagtgagggagttcaacttcgagaaatggaatgctcgcatcactgatctacgtaaacaagttgaagaattgtttgaaaggaaatatgctcaagccataaaagccaaaggtccggtgacgatcccgtaccctcttttccagtctcatgttgaagatctttatgtagaaggacttcctgaaggaattccttttagaaggccatctacttacggaattcctcgcctggagaggatattacttgcaaaggaaaggattcgttttgtgattaagaaacatgagcttctgaattcaacacgtgaagatttacagcttgataagccagcttcaggagtaaaggaagaatggtatgccagaatcactaaattaagaaagatggtggatcagcttttctgcaaaaaatttgcggaagccttggggagcactgaagccaaggctgtaccgtaccaaaaatttgaggcacacccgaatgatctgtacgtggaaggactgccagaaaacattcctttccgaagtccctcatggtatggaatcccaaggctggaaaaaatcattcaagtgggcaatcgaattaaatttgttattaaaagaccagaacttctgactcacagtaccactgaagttactcagccaagaacgaatacaccagtcaaagaagattggaatgtcagaattaccaagctacggaagcaagtggaagagatttttaatttgaaatttgctcaagctcttggactcaccgaggcagtaaaagtaccatatcctgtgtttgaatcaaacccggagttcttgtatgtggaaggcttgccagaggggattcccttccgaagccctacctggtttggaattccacgacttgaaaggatcgtccgcgggagtaataaaatcaagttcgttgttaaaaaacctgaactagttatttcctacttgcctcctgggatggctagtaaaataaacactaaagctttgcagtcccccaaaagaccacgaagtcctgggagtaattcaaaggttcctgaaattgaggtcaccgtggaaggccctaataacaacaatcctcaaacctcagctgttcgaaccccgacccagactaacggttctaacgttcccttcaagccacgagggagagagttttcctttgaggcctggaatgccaaaatcacggacctaaaacagaaagttgaaaatctcttcaatgagaaatgtggggaagctcttggccttaaacaagctgtgaaggtgccgttcgcgttatttgagtctttcccggaagacttttatgtggaaggcttacctgagggtgtgccattccgaagaccatcgacttttggcattccgaggctggagaagatactcagaaacaaagccaaaattaagttcatcattaaaaagcccgaaatgtttgagacggcgattaaggagagcacctcctctaagagccctcccagaaaaataaattcatcacccaatgttaatactactgcatcaggtgttgaagaccttaacatcattcaggtgacaattccagatgatgataatgaaagactctcgaaagttgaaaaagctagacagctaagagaacaagtgaatgacctctttagtcggaaatttggtgaagctattggtatgggttttcctgtgaaagttccctacaggaaaatcacaattaaccctggctgtgtggtggttgatggcatgcccccgggggtgtccttcaaagcccccagctacctggaaatcagctccatgagaaggatcttagactctgccgagtttatcaaattcacggtcattagaccatttccaggacttgtgattaataaccagctggttgatcagagtgagtcagaaggccccgtgatacaagaatcagctgaaccaagccagttggaagttccagccacagaagaaataaaagagactgatggaagctctcagatcaagcaagaaccagaccccacgtggtagacctcttccctcctaggcttaaagtatcagtggttgagaagagcttttcggacctgttactaccccaagctgtgtaatatacttgtataacagaaataccttctatacaaacctttttttctacttttagatagaaatgtctactttttcagcagttctgtgaattaaagagcagagtgactgtgggtctggaatggctggtgtacttgggaatgtactatcaggattttacagcaatgctgggaaatgacagggaaaatgacaggaatgaatctcaccagattttttatgtactcagcagagccttgagttacggtgtttattttccaatcaagtgaagatatctcctacttctcctactggaacatctcagcttctgcagtgaagaaaaattcctgtgatagttcagttctttagtttttctatttgaaaaaaaaaaatcatttaaatgatcctttgttcacggctctccttaatgactgagtgaacagttcctatctgtatatttgactaaaccttttcctaagctatctctcatggttcctatgtttttttatcataattaaaagcaaaaccatctggatcacctaacagtcagaggtcagtatctcagcgtgtgaattatagaggaaatacagagagaacctcttccacttttacttttcgtccaaataaaatgcatggtgtaccagaagttgaagatcgggttgaggattggggctagctcgatgacactaaggccccaacatcgcgggacctgctgtggcgcggattcttaggaacgctgttctagccggccccctctccaggggtcgccgtggccggcattatttcctagttcttcttgtaaccctgaggtgccagcgcggggagtgaggaggggtcagggggctaaggatgcaacctctgacgttctgcgccttcctaggagagtcttacatgtgttgagatttcacaagcaatgcgagttgtaaaataccagctctacaagaagctaggctctgtgacggcatagttttcagtagctttatcacaatattcacaatggagaattatatgacatggtagcagaaataggcccttttatgtgttgcttctattttacctcaaattgtagatatagggtaatcaataaaatccatccatgcctttcacacactaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2969 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:2969 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
GeneID:2969 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:2969 -> Molecular function: GO:0051019 [mitogen-activated protein kinase binding] evidence: IEA
GeneID:2969 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:2969 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS
GeneID:2969 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:2969 -> Biological process: GO:0009790 [embryo development] evidence: IEA
GeneID:2969 -> Biological process: GO:0016525 [negative regulation of angiogenesis] evidence: IDA
GeneID:2969 -> Biological process: GO:0051481 [reduction of cytosolic calcium ion concentration] evidence: IEA
GeneID:2969 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:2969 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:2969 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
GeneID:2969 -> Cellular component: GO:0042995 [cell projection] evidence: IEA
GeneID:2969 -> Cellular component: GO:0043025 [neuronal cell body] evidence: IEA
by
@meso_cacase at
DBCLS
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