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2025-05-09 17:29:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001271044 5545 bp mRNA linear PRI 22-JUN-2013
DEFINITION Homo sapiens nuclear factor I/X (CCAAT-binding transcription
factor) (NFIX), transcript variant 3, mRNA.
ACCESSION NM_001271044
VERSION NM_001271044.1 GI:402534521
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 5545)
AUTHORS Lee,H.J., Woo,H.G., Greenwood,T.A., Kripke,D.F. and Kelsoe,J.R.
TITLE A genome-wide association study of seasonal pattern mania
identifies NF1A as a possible susceptibility gene for bipolar
disorder
JOURNAL J Affect Disord 145 (2), 200-207 (2013)
PUBMED 22925353
REFERENCE 2 (bases 1 to 5545)
AUTHORS Yoneda,Y., Saitsu,H., Touyama,M., Makita,Y., Miyamoto,A.,
Hamada,K., Kurotaki,N., Tomita,H., Nishiyama,K., Tsurusaki,Y.,
Doi,H., Miyake,N., Ogata,K., Naritomi,K. and Matsumoto,N.
TITLE Missense mutations in the DNA-binding/dimerization domain of NFIX
cause Sotos-like features
JOURNAL J. Hum. Genet. 57 (3), 207-211 (2012)
PUBMED 22301465
REMARK GeneRIF: missense mutations in NFIX were able to cause Sotos-like
features.
REFERENCE 3 (bases 1 to 5545)
AUTHORS Lee,H., Jaffe,A.E., Feinberg,J.I., Tryggvadottir,R., Brown,S.,
Montano,C., Aryee,M.J., Irizarry,R.A., Herbstman,J., Witter,F.R.,
Goldman,L.R., Feinberg,A.P. and Fallin,M.D.
TITLE DNA methylation shows genome-wide association of NFIX, RAPGEF2 and
MSRB3 with gestational age at birth
JOURNAL Int J Epidemiol 41 (1), 188-199 (2012)
PUBMED 22422452
REMARK GeneRIF: DNA methylation shows genome-wide association of NFIX,
RAPGEF2 and MSRB3 with gestational age at birth.
REFERENCE 4 (bases 1 to 5545)
AUTHORS Singh,S.K., Bhardwaj,R., Wilczynska,K.M., Dumur,C.I. and Kordula,T.
TITLE A complex of nuclear factor I-X3 and STAT3 regulates astrocyte and
glioma migration through the secreted glycoprotein YKL-40
JOURNAL J. Biol. Chem. 286 (46), 39893-39903 (2011)
PUBMED 21953450
REMARK GeneRIF: NFI-X3 and STAT3 control the migration of differentiating
astrocytes as well as migration and invasion of glioma cells via
regulating YKL-40 expression.
REFERENCE 5 (bases 1 to 5545)
AUTHORS Singh,S.K., Wilczynska,K.M., Grzybowski,A., Yester,J., Osrah,B.,
Bryan,L., Wright,S., Griswold-Prenner,I. and Kordula,T.
TITLE The unique transcriptional activation domain of nuclear factor-I-X3
is critical to specifically induce marker gene expression in
astrocytes
JOURNAL J. Biol. Chem. 286 (9), 7315-7326 (2011)
PUBMED 21189253
REMARK GeneRIF: NFI-X3 activates GFAP expression, in part, by inducing
alterations in the nucleosome architecture that lead to the
increased recruitment of RNA polymerase II
REFERENCE 6 (bases 1 to 5545)
AUTHORS Wendler,W.M., Kremmer,E., Forster,R. and Winnacker,E.L.
TITLE Identification of pirin, a novel highly conserved nuclear protein
JOURNAL J. Biol. Chem. 272 (13), 8482-8489 (1997)
PUBMED 9079676
REFERENCE 7 (bases 1 to 5545)
AUTHORS Sumner,C., Shinohara,T., Durham,L., Traub,R., Major,E.O. and
Amemiya,K.
TITLE Expression of multiple classes of the nuclear factor-1 family in
the developing human brain: differential expression of two classes
of NF-1 genes
JOURNAL J. Neurovirol. 2 (2), 87-100 (1996)
PUBMED 8799200
REFERENCE 8 (bases 1 to 5545)
AUTHORS Qian,F., Kruse,U., Lichter,P. and Sippel,A.E.
TITLE Chromosomal localization of the four genes (NFIA, B, C, and X) for
the human transcription factor nuclear factor I by FISH
JOURNAL Genomics 28 (1), 66-73 (1995)
PUBMED 7590749
REFERENCE 9 (bases 1 to 5545)
AUTHORS Apt,D., Liu,Y. and Bernard,H.U.
TITLE Cloning and functional analysis of spliced isoforms of human
nuclear factor I-X: interference with transcriptional activation by
NFI/CTF in a cell-type specific manner
JOURNAL Nucleic Acids Res. 22 (19), 3825-3833 (1994)
PUBMED 7937100
REFERENCE 10 (bases 1 to 5545)
AUTHORS Seisenberger,C., Winnacker,E.L. and Scherthan,H.
TITLE Localisation of the human nuclear factor I/X (NFI/X) gene to
chromosome 19p13 and detection of five other related loci at
1p21-22, 1q42-43, 5q15, 11p13 and 20q13 by FISH
JOURNAL Hum. Genet. 91 (6), 535-537 (1993)
PUBMED 8340106
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP228658.1, U18759.1 and
AC007787.1.
Summary: The protein encoded by this gene is a transcription factor
that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral
and cellular promoters. The encoded protein can also stimulate
adenovirus replication in vitro. Three transcript variants encoding
different isoforms have been found for this gene. [provided by
RefSeq, Aug 2012].
Transcript Variant: This variant (3) differs in the 5' UTR and
coding sequence and lacks an alternate 3' exon compared to variant
1, that causes a frameshift. The resulting isoform (3) has shorter
and distinct N- and C-termini compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on 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 :: U18759.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-25 BP228658.1 1-25
26-1460 U18759.1 6-1440
1461-5545 AC007787.1 32308-36392
FEATURES Location/Qualifiers
source 1..5545
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.3"
gene 1..5545
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="nuclear factor I/X (CCAAT-binding transcription
factor)"
/db_xref="GeneID:4784"
/db_xref="HGNC:7788"
/db_xref="MIM:164005"
exon 1..64
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
CDS 62..1363
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="isoform 3 is encoded by transcript variant 3;
nuclear factor 1 X-type; CTF; NF1-X; NF-I/X; nuclear
factor 1/X; TGGCA-binding protein; CCAAT-box-binding
transcription factor"
/codon_start=1
/product="nuclear factor 1 X-type isoform 3"
/protein_id="NP_001257973.1"
/db_xref="GI:402534522"
/db_xref="CCDS:CCDS59359.1"
/db_xref="GeneID:4784"
/db_xref="HGNC:7788"
/db_xref="MIM:164005"
/translation="
MDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQHSQRQAPPLPTGLSASDPGTATF
"
misc_feature 65..175
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="Nuclear factor I protein pre-N-terminus; Region:
NfI_DNAbd_pre-N; pfam10524"
/db_xref="CDD:151076"
misc_feature 239..547
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="N-terminal Mad Homology 1 (MH1) domain; Region:
MH1; cl00055"
/db_xref="CDD:241576"
misc_feature 674..>1345
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="CTF/NF-I family transcription modulation region;
Region: CTF_NFI; pfam00859"
/db_xref="CDD:144451"
exon 65..596
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 109
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368774795"
variation 154
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148229471"
variation 170
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="g"
/db_xref="dbSNP:5827175"
variation 178
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375719449"
variation 190
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150443437"
variation 216
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907254"
variation 220
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369196245"
STS 236..480
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="NFIX"
/db_xref="UniSTS:504112"
variation 295
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375310739"
variation 301
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373938156"
variation 346
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376885081"
variation 347
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:370482598"
variation 397
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369056833"
variation 399
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:387907255"
variation 419..420
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="gggggg"
/db_xref="dbSNP:149894387"
variation 426
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200603126"
variation 430
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200313486"
variation 505
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199762875"
STS 527..1376
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="Nfix"
/db_xref="UniSTS:507089"
variation 593
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:372477615"
exon 597..659
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 605
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907253"
variation 637
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367591626"
exon 660..734
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
exon 735..855
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 778
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201664313"
variation 823
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199590032"
variation 850
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369151512"
exon 856..992
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 880
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201741871"
variation 888
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113721268"
variation 892
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1047135"
variation 936
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374776005"
variation 970
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199631786"
variation 979
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372881529"
exon 993..1115
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1060
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373603800"
variation 1061
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61754992"
exon 1116..1291
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1177
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201174259"
variation 1264
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374101865"
variation 1273
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367955217"
variation 1285
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:372077833"
exon 1292..1383
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1297
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372257657"
variation 1338
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200499751"
variation 1351
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375287066"
exon 1384..5545
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1471
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1047144"
variation 1556..1557
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="g"
/db_xref="dbSNP:34095276"
STS 1589..1709
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="RH91530"
/db_xref="UniSTS:86722"
variation 1637
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375166012"
variation 1655
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144975330"
variation 1676
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:183935392"
STS 1683..1890
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="RH18298"
/db_xref="UniSTS:30706"
variation 1730
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:112643821"
variation 1957
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10416646"
variation 2047
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:57359947"
variation 2118
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375305695"
variation 2150
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:80090842"
variation 2250..2269
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="gagggcctccttcctgccac"
/db_xref="dbSNP:375140220"
variation 2263
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369047813"
variation 2423
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145814634"
variation 2538..2539
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:34337363"
variation 2542..2543
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:5827180"
variation 2586
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:77607471"
variation 2645
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:113027509"
variation 2646
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111560188"
variation 2718
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:188413501"
variation 2749
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181608618"
variation 2811
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:372616189"
variation 2815..2816
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:201158408"
variation 2816
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:35992708"
variation 2960
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148149655"
variation 2961..2964
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="tctc"
/db_xref="dbSNP:199726177"
variation 2962..2965
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="ctct"
/db_xref="dbSNP:377649271"
variation 3081
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11555273"
variation 3107
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367898239"
variation 3117
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113396930"
variation 3128
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:184187752"
variation 3166
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61270571"
variation 3216
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369984914"
variation 3219
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11555274"
variation 3332
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376300898"
variation 3641
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:71798576"
variation 3700
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:112879585"
variation 3705..3706
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:71841362"
variation 3808..3809
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:142626844"
variation 3917
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:190683071"
variation 3937..3938
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="t"
/db_xref="dbSNP:71719751"
variation 3937
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="t"
/db_xref="dbSNP:112478002"
variation 4007
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:182072517"
polyA_signal 4224..4229
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_site 4255
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
variation 4400
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150757731"
variation 4472
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:117198656"
variation 4612
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:75550675"
variation 4672
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:10419483"
variation 4718
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137978145"
variation 5091
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186285075"
variation 5098..5099
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:34291647"
variation 5356
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:112707286"
polyA_signal 5517..5522
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_signal 5525..5530
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_site 5545
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
ORIGIN
aactcttttgagtccagaatctcagaatcgggcgttgggctttgccgggtgcttcagatcaatggatgagttccacccgttcatcgaggcactgctgcctcacgtccgcgctttctcctacacctggttcaacctgcaggcgcggaagcgcaagtacttcaagaagcatgaaaagcggatgtcgaaggacgaggagcgggcggtgaaggacgagctgctgggcgagaagcccgagatcaagcagaagtgggcatcccggctgctggccaagctgcgcaaggacatccggcccgagttccgcgaggacttcgtgctgaccatcacgggcaagaagcccccctgctgcgtgctctccaaccccgaccagaagggcaagatccggcggattgactgcctgcgccaggctgacaaggtgtggcggctggacctggtcatggtgattttgtttaaggggatccccctggaaagtactgatggggagcggctctacaagtcgcctcagtgctcgaaccccggcctgtgcgtccagccacatcacattggagtcacaatcaaagaactggatctttatctggcttactttgtccacactccggaatccggacaatcagatagttcaaaccagcaaggagatgcggacatcaaaccactgcccaacgggcacttaagtttccaggactgttttgtgacttccggggtctggaatgtgacggagctggtgagagtatcacagactcctgttgcaacagcatcagggcccaacttctccctggcggacctggagagtcccagctactacaacatcaaccaggtgaccctggggcggcggtccatcacctcccctccttccaccagcaccaccaagcgccccaagtccatcgatgacagtgagatggagagccctgttgatgacgtgttctatcccgggacaggccgttccccagcagctggcagcagccagtccagcgggtggcccaacgatgtggatgcaggcccggcttctctaaagaagtcaggaaagctggacttctgcagtgccctctcctctcagggcagctccccgcgcatggctttcacccaccacccgctgcctgtgcttgctggagtcagaccagggagcccccgggccacagcatcagccctgcacttcccctccacgtccatcatccagcagtcgagcccgtatttcacgcacccgaccatccgctaccaccaccaccacgggcaggactcactgaaggagtttgtgcagtttgtgtgctcggatggctcgggccaggccaccggacagcattcgcaacgacaggcgcctcctctgccaaccggtttgtcagcatcggaccccgggacggcaactttctgaacatcccacagcagtctcagtcctggttcctctgataagatcgacaaaagaaacaacaaaatgagaagaagaggttcctcgaaaggggggagaagaaattttgagaatggaaaaatcccccagcccagcccagccccaccgaaaagcaaaaattacacgtcgtcagccactcagcccttctctcctccagcccggggacccccgcgggccccagaagcagcccagttctcagagagcccttggaaggggtctcggtggagctgtgcaccagcagccaagcagaaagaaacacgcgacatggactctgtcaagtagaggacagaaagcaagaaaggatgcagaactgccttcctccccctgaccccgccccggccttctggggaaggaacaaagtccccaaacaaagcaaccagcacaattctgaaggggcctggcctccaccctcaccccttcctaggggaaccccaccctccacacagccggagctgccctagggagcctggagggccagcttgtaaagatgatggggtttagatccctcaggctctcccctccagactccgcccttccctccctccctccctccctccctctctgccaaggctccagcttcttcccccagctgctcccgaccaggagggggagagcagcctccacttaccccaccccacccttgggctaaaagcccccaggcgggcagggggtgacccctggagctagttgcgtgtcccagaatggagggtgttctgacaccccaccctgagccgcaagagcagtcctggggccctggacccctctgtacagtccgtaggaaaaagtcggaatgctctcgacggcctcgtcccagcctgggacaggccccctttcccctctctctgcaggccaggagggcctccttcctgccacgagggaggggagtcgggccccaggtcgcccccgcccccagccctgcatgcaggtgccctcgctccgccccatcagttcctgcccctgcccctcatgcagactgccctgctggggccgggccggagggtggagcagaaaggggaccccggagccgagcgaggaggaccaggcagccgccgctgccgcgctaagccaccacctgcgcttaggtaggcgtcctgctcgccgactttcagttccttgggagggtgttgggtgtcgtccttttcaaaagtgttttggagctttctgtgccccccgactttcccccgcctccccgccccccacgtggccacttttctctggattttagctgtaatgtctttactctttatttaggggtggggcattcattgtttgggtcttttgctgttggaatgggaactcctcctccatttgagcaacttgggaacaatttggtaacacaccacaggaagtagctctcccccccagccccctcctccctcaagggagggttggggggcctgtccagagggtcttcagaagcccccctgggagggaggggaggatgagcacgcccagctcccctccagggtgtgacttggcccctctggcttgtctttctgtgccttactcctcctcctgcgtctcccgttcctggccccttcttgagtccttgtgcctctctctttctctctctttcttaattgtatgaaaacacaaagcacaggtcaggatcctctgagagaaaatcaacattgcaccacgtaggggtgggctatgggctgtatttattgtgaatctagtttgtgaggctgtggccccgagctggcggagggagggaagaggagggagtgacgggaggggaggaggtcagcgacctggggccgtagcggcaggcgaacggtgcctgctacccagctggaagccacaaggtggctggctccaggggcggcttttgttggaagttgagtgaagccctccccctgtcctcagcgtgcagccctagaggaccccagggctgaggggcagtggatcctgcgggagtctcccggggcgtggggagtaaggccccgggggtggggggccgggtgggccgggcgtgacgcgcggtcaaagtgcaatgatttttcagttcggttggctaaacagggtcagagctgagagcgaagcagaaggggctccctgtccggcccacgtgccctttccctcgacgacagtcgagggctcgggctctgtgggactgtgggagctagggtctgcggggcgcctgcccgggcgaggtcggaagctgcaggccagctgggcccgggccggagcgtgcccggcggggctgcccgggcgggcagggggtgggggctgctcctttcccaagtggtgttgtgaggggcaatgagggcaacaggagatgtggggacgtgttaggagagaaaaaaaaaaaaacaaaaatatatatgggggaaattaacttttttttttcattgaaccaagtgcaatgcatcagagagttttcctatctttgtatgttaagagattaagaaaaaaaaattctatttttgttgtaatgtcctcgcggctctggggacgctaaaagaaccgggcctgccccgccctgcgcggggataacgaaagctgagtgtttttcccttttttttgttcgtttttagtttttttttttttaagtcgttttcctgcgttgacgaggatgatctggggtttttatttgtttcgtcgttcgttctgtttcggtgggagggctgaaggaaacgttcacattttagagtttaaaaaaaacacctcgacatttaaaaaatcaaccaacacaagatcaaaaaggaaaaggacgagagaaaaattatttttaagataattaaacataaaaccctggtgcttcttacattataaagtacgttttaaagaacccacaaactattatacataagtttatgaatcaattaaatatcctgcacttgttaggaatacgcatatcccttctttgttgagtttaacggaacgggacagcggcgtgcccccggcggctggactgctccggccgcgggtctccccgggcgcccctccctggggcccagcacccctcctcgccccatccccgtccgggtacgggggcgcggcaggggtccccggcccctcccccgcagaggtcaatgccaacgaacaaacgtcccctccctccctccctctccgccccgagcgcccttctttgagccagacgccaacttgaccctcaccagcattatcaggagcgcgctcagcaagttggtagtttcctcccccctttcccggcgcccctcccgcccccattcaacatctctcatcctatccccgaccccctccggggaacaccgggaaggctcgacgctccaggacaggaccagccacgcagacaggtcgatttgcccaggcccgcgcccgcacgcacgcacgcacacggccccgcacacagccccgccccaccccgcaaccagccctgtcgactgccttatacacccgcccccgcgctggccggccgacctagtgccttgttctcacccccgtgctggcggagcggacgccgcgctctgggtcccagaggggccgggtggctcagacgacccaccactcccccaccctgaccgtgctgaacagacccccccacacgagagaaaataaaggagcaataaagtcacgagaactttcgtcccccaatcgagagcccgaggggcaccccagccccgcctctgctcccccccaccccacccaccctcggggcgcccccctccccccgcaagccagcctgggccagccccgcttcggcccctcccgggagatccgtgcgcccgaccagcaccagcatcgcggaccgcaaaggccgcccgtcccgtcaaacaagtttcttcttaggctaagaaacgcagtatatacgagtatctctatatatagtactaatggatttggtgtgcttcccccttagcgtccccctccctctgctcctcctccttcagcctggtctccccctcttctctgccctccacccccgtctctgcactgagatacataagaaacaagggtagtttactgtctgttttgttttctgggttttcagtgtcctagcggaatgcaagtaggcagccagcccgtctgttccctctccgccccgccccgccccgcccccgtcactgcgcttctgttataccatctttgcctgactctctccggcttctccattgaatggctaatgtgtatgtgaaataaagaaataaagaaaaacaaacgcga
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4784 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:4784 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: TAS
GeneID:4784 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: TAS
GeneID:4784 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:4784 -> Biological process: GO:0006260 [DNA replication] evidence: IEA
GeneID:4784 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:4784 -> Biological process: GO:0021680 [cerebellar Purkinje cell layer development] evidence: IEA
GeneID:4784 -> Biological process: GO:0021707 [cerebellar granule cell differentiation] evidence: IEA
GeneID:4784 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:4784 -> Biological process: GO:0048708 [astrocyte differentiation] evidence: IEA
GeneID:4784 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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