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2025-05-09 17:46:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002501 5576 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens nuclear factor I/X (CCAAT-binding transcription
factor) (NFIX), transcript variant 2, mRNA.
ACCESSION NM_002501
VERSION NM_002501.2 GI:56549648
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 5576)
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 BF115883.1, U18759.1 and
AC007787.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 10, 2004 this sequence version replaced gi:4505380.
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 (2) 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 (2) has shorter
and distinct N- and C-termini compared to isoform 1.
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##
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
1-493 BF115883.1 1-493
494-1491 U18759.1 443-1440
1492-5576 AC007787.1 32308-36392
FEATURES Location/Qualifiers
source 1..5576
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.3"
gene 1..5576
/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..95
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
CDS 69..1394
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="isoform 2 is encoded by transcript variant 2;
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 2"
/protein_id="NP_002492.2"
/db_xref="GI:56549649"
/db_xref="CCDS:CCDS45996.1"
/db_xref="GeneID:4784"
/db_xref="HGNC:7788"
/db_xref="MIM:164005"
/translation="
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQHSQRQAPPLPTGLSASDPGTATF
"
misc_feature 75..206
/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 270..578
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="N-terminal Mad Homology 1 (MH1) domain; Region:
MH1; cl00055"
/db_xref="CDD:241576"
misc_feature 705..>1376
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/note="CTF/NF-I family transcription modulation region;
Region: CTF_NFI; pfam00859"
/db_xref="CDD:144451"
misc_feature 906..908
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q14938.2); phosphorylation site"
exon 96..627
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 140
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368774795"
variation 185
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148229471"
variation 201
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="g"
/db_xref="dbSNP:5827175"
variation 209
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375719449"
variation 221
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150443437"
variation 247
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907254"
variation 251
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369196245"
STS 267..511
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="NFIX"
/db_xref="UniSTS:504112"
variation 326
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375310739"
variation 332
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373938156"
variation 377
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376885081"
variation 378
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:370482598"
variation 428
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369056833"
variation 430
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:387907255"
variation 450..451
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="gggggg"
/db_xref="dbSNP:149894387"
variation 457
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200603126"
variation 461
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200313486"
variation 536
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199762875"
STS 558..1407
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="Nfix"
/db_xref="UniSTS:507089"
variation 624
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:372477615"
exon 628..690
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 636
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907253"
variation 668
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367591626"
exon 691..765
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
exon 766..886
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 809
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201664313"
variation 854
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199590032"
variation 881
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369151512"
exon 887..1023
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 911
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201741871"
variation 919
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113721268"
variation 923
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1047135"
variation 967
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374776005"
variation 1001
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199631786"
variation 1010
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372881529"
exon 1024..1146
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1091
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373603800"
variation 1092
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61754992"
exon 1147..1322
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1208
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201174259"
variation 1295
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374101865"
variation 1304
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367955217"
variation 1316
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:372077833"
exon 1323..1414
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1328
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372257657"
variation 1369
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200499751"
variation 1382
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375287066"
exon 1415..5576
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/inference="alignment:Splign:1.39.8"
variation 1502
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1047144"
variation 1587..1588
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="g"
/db_xref="dbSNP:34095276"
STS 1620..1740
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="RH91530"
/db_xref="UniSTS:86722"
variation 1668
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:375166012"
variation 1686
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144975330"
variation 1707
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:183935392"
STS 1714..1921
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/standard_name="RH18298"
/db_xref="UniSTS:30706"
variation 1761
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:112643821"
variation 1988
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:10416646"
variation 2078
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:57359947"
variation 2149
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:375305695"
variation 2181
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:80090842"
variation 2281..2300
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="gagggcctccttcctgccac"
/db_xref="dbSNP:375140220"
variation 2294
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369047813"
variation 2454
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:145814634"
variation 2569..2570
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:34337363"
variation 2573..2574
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:5827180"
variation 2617
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:77607471"
variation 2676
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:113027509"
variation 2677
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111560188"
variation 2749
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:188413501"
variation 2780
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:181608618"
variation 2842
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:372616189"
variation 2846..2847
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:201158408"
variation 2847
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:35992708"
variation 2991
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148149655"
variation 2992..2995
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="tctc"
/db_xref="dbSNP:199726177"
variation 2993..2996
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="ctct"
/db_xref="dbSNP:377649271"
variation 3112
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11555273"
variation 3138
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367898239"
variation 3148
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113396930"
variation 3159
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:184187752"
variation 3197
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61270571"
variation 3247
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369984914"
variation 3250
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11555274"
variation 3363
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376300898"
variation 3672
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="c"
/db_xref="dbSNP:71798576"
variation 3731
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:112879585"
variation 3736..3737
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:71841362"
variation 3839..3840
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:142626844"
variation 3948
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:190683071"
variation 3968..3969
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="t"
/db_xref="dbSNP:71719751"
variation 3968
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="t"
/db_xref="dbSNP:112478002"
variation 4038
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:182072517"
polyA_signal 4255..4260
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_site 4286
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
variation 4431
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150757731"
variation 4503
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:117198656"
variation 4643
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:75550675"
variation 4703
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:10419483"
variation 4749
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137978145"
variation 5122
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:186285075"
variation 5129..5130
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace=""
/replace="a"
/db_xref="dbSNP:34291647"
variation 5387
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:112707286"
polyA_signal 5548..5553
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_signal 5556..5561
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
polyA_site 5576
/gene="NFIX"
/gene_synonym="MRSHSS; NF1A; SOTOS2"
ORIGIN
gcggccgccgcctgccgggcctcccctcgccgcggccggccgccgcgctcccgcccgggcgcccagctatgtactccccgtactgcctcacccaggatgagttccacccgttcatcgaggcactgctgcctcacgtccgcgctttctcctacacctggttcaacctgcaggcgcggaagcgcaagtacttcaagaagcatgaaaagcggatgtcgaaggacgaggagcgggcggtgaaggacgagctgctgggcgagaagcccgagatcaagcagaagtgggcatcccggctgctggccaagctgcgcaaggacatccggcccgagttccgcgaggacttcgtgctgaccatcacgggcaagaagcccccctgctgcgtgctctccaaccccgaccagaagggcaagatccggcggattgactgcctgcgccaggctgacaaggtgtggcggctggacctggtcatggtgattttgtttaaggggatccccctggaaagtactgatggggagcggctctacaagtcgcctcagtgctcgaaccccggcctgtgcgtccagccacatcacattggagtcacaatcaaagaactggatctttatctggcttactttgtccacactccggaatccggacaatcagatagttcaaaccagcaaggagatgcggacatcaaaccactgcccaacgggcacttaagtttccaggactgttttgtgacttccggggtctggaatgtgacggagctggtgagagtatcacagactcctgttgcaacagcatcagggcccaacttctccctggcggacctggagagtcccagctactacaacatcaaccaggtgaccctggggcggcggtccatcacctcccctccttccaccagcaccaccaagcgccccaagtccatcgatgacagtgagatggagagccctgttgatgacgtgttctatcccgggacaggccgttccccagcagctggcagcagccagtccagcgggtggcccaacgatgtggatgcaggcccggcttctctaaagaagtcaggaaagctggacttctgcagtgccctctcctctcagggcagctccccgcgcatggctttcacccaccacccgctgcctgtgcttgctggagtcagaccagggagcccccgggccacagcatcagccctgcacttcccctccacgtccatcatccagcagtcgagcccgtatttcacgcacccgaccatccgctaccaccaccaccacgggcaggactcactgaaggagtttgtgcagtttgtgtgctcggatggctcgggccaggccaccggacagcattcgcaacgacaggcgcctcctctgccaaccggtttgtcagcatcggaccccgggacggcaactttctgaacatcccacagcagtctcagtcctggttcctctgataagatcgacaaaagaaacaacaaaatgagaagaagaggttcctcgaaaggggggagaagaaattttgagaatggaaaaatcccccagcccagcccagccccaccgaaaagcaaaaattacacgtcgtcagccactcagcccttctctcctccagcccggggacccccgcgggccccagaagcagcccagttctcagagagcccttggaaggggtctcggtggagctgtgcaccagcagccaagcagaaagaaacacgcgacatggactctgtcaagtagaggacagaaagcaagaaaggatgcagaactgccttcctccccctgaccccgccccggccttctggggaaggaacaaagtccccaaacaaagcaaccagcacaattctgaaggggcctggcctccaccctcaccccttcctaggggaaccccaccctccacacagccggagctgccctagggagcctggagggccagcttgtaaagatgatggggtttagatccctcaggctctcccctccagactccgcccttccctccctccctccctccctccctctctgccaaggctccagcttcttcccccagctgctcccgaccaggagggggagagcagcctccacttaccccaccccacccttgggctaaaagcccccaggcgggcagggggtgacccctggagctagttgcgtgtcccagaatggagggtgttctgacaccccaccctgagccgcaagagcagtcctggggccctggacccctctgtacagtccgtaggaaaaagtcggaatgctctcgacggcctcgtcccagcctgggacaggccccctttcccctctctctgcaggccaggagggcctccttcctgccacgagggaggggagtcgggccccaggtcgcccccgcccccagccctgcatgcaggtgccctcgctccgccccatcagttcctgcccctgcccctcatgcagactgccctgctggggccgggccggagggtggagcagaaaggggaccccggagccgagcgaggaggaccaggcagccgccgctgccgcgctaagccaccacctgcgcttaggtaggcgtcctgctcgccgactttcagttccttgggagggtgttgggtgtcgtccttttcaaaagtgttttggagctttctgtgccccccgactttcccccgcctccccgccccccacgtggccacttttctctggattttagctgtaatgtctttactctttatttaggggtggggcattcattgtttgggtcttttgctgttggaatgggaactcctcctccatttgagcaacttgggaacaatttggtaacacaccacaggaagtagctctcccccccagccccctcctccctcaagggagggttggggggcctgtccagagggtcttcagaagcccccctgggagggaggggaggatgagcacgcccagctcccctccagggtgtgacttggcccctctggcttgtctttctgtgccttactcctcctcctgcgtctcccgttcctggccccttcttgagtccttgtgcctctctctttctctctctttcttaattgtatgaaaacacaaagcacaggtcaggatcctctgagagaaaatcaacattgcaccacgtaggggtgggctatgggctgtatttattgtgaatctagtttgtgaggctgtggccccgagctggcggagggagggaagaggagggagtgacgggaggggaggaggtcagcgacctggggccgtagcggcaggcgaacggtgcctgctacccagctggaagccacaaggtggctggctccaggggcggcttttgttggaagttgagtgaagccctccccctgtcctcagcgtgcagccctagaggaccccagggctgaggggcagtggatcctgcgggagtctcccggggcgtggggagtaaggccccgggggtggggggccgggtgggccgggcgtgacgcgcggtcaaagtgcaatgatttttcagttcggttggctaaacagggtcagagctgagagcgaagcagaaggggctccctgtccggcccacgtgccctttccctcgacgacagtcgagggctcgggctctgtgggactgtgggagctagggtctgcggggcgcctgcccgggcgaggtcggaagctgcaggccagctgggcccgggccggagcgtgcccggcggggctgcccgggcgggcagggggtgggggctgctcctttcccaagtggtgttgtgaggggcaatgagggcaacaggagatgtggggacgtgttaggagagaaaaaaaaaaaaacaaaaatatatatgggggaaattaacttttttttttcattgaaccaagtgcaatgcatcagagagttttcctatctttgtatgttaagagattaagaaaaaaaaattctatttttgttgtaatgtcctcgcggctctggggacgctaaaagaaccgggcctgccccgccctgcgcggggataacgaaagctgagtgtttttcccttttttttgttcgtttttagtttttttttttttaagtcgttttcctgcgttgacgaggatgatctggggtttttatttgtttcgtcgttcgttctgtttcggtgggagggctgaaggaaacgttcacattttagagtttaaaaaaaacacctcgacatttaaaaaatcaaccaacacaagatcaaaaaggaaaaggacgagagaaaaattatttttaagataattaaacataaaaccctggtgcttcttacattataaagtacgttttaaagaacccacaaactattatacataagtttatgaatcaattaaatatcctgcacttgttaggaatacgcatatcccttctttgttgagtttaacggaacgggacagcggcgtgcccccggcggctggactgctccggccgcgggtctccccgggcgcccctccctggggcccagcacccctcctcgccccatccccgtccgggtacgggggcgcggcaggggtccccggcccctcccccgcagaggtcaatgccaacgaacaaacgtcccctccctccctccctctccgccccgagcgcccttctttgagccagacgccaacttgaccctcaccagcattatcaggagcgcgctcagcaagttggtagtttcctcccccctttcccggcgcccctcccgcccccattcaacatctctcatcctatccccgaccccctccggggaacaccgggaaggctcgacgctccaggacaggaccagccacgcagacaggtcgatttgcccaggcccgcgcccgcacgcacgcacgcacacggccccgcacacagccccgccccaccccgcaaccagccctgtcgactgccttatacacccgcccccgcgctggccggccgacctagtgccttgttctcacccccgtgctggcggagcggacgccgcgctctgggtcccagaggggccgggtggctcagacgacccaccactcccccaccctgaccgtgctgaacagacccccccacacgagagaaaataaaggagcaataaagtcacgagaactttcgtcccccaatcgagagcccgaggggcaccccagccccgcctctgctcccccccaccccacccaccctcggggcgcccccctccccccgcaagccagcctgggccagccccgcttcggcccctcccgggagatccgtgcgcccgaccagcaccagcatcgcggaccgcaaaggccgcccgtcccgtcaaacaagtttcttcttaggctaagaaacgcagtatatacgagtatctctatatatagtactaatggatttggtgtgcttcccccttagcgtccccctccctctgctcctcctccttcagcctggtctccccctcttctctgccctccacccccgtctctgcactgagatacataagaaacaagggtagtttactgtctgttttgttttctgggttttcagtgtcctagcggaatgcaagtaggcagccagcccgtctgttccctctccgccccgccccgccccgcccccgtcactgcgcttctgttataccatctttgcctgactctctccggcttctccattgaatggctaatgtgtatgtgaaataaagaaataaagaaaaacaaacgcga
//
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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