AutismKB 2.0

Annotation Detail for NFIA


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Basic Information Top
Gene Symbol:NFIA ( DKFZp434L0422,DKFZp686J23256,FLJ39164,KIAA1439,NFI-L )
Gene Full Name: nuclear factor I/A
Band: 1p31.3
Quick LinksEntrez ID:4774; OMIM: 600727; Uniprot ID:NFIA_HUMAN; ENSEMBL ID: ENSG00000162599; HGNC ID: 7784
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
258Phosphoserine.
265Phosphoserine.
280Phosphoserine.
287Phosphoserine.
300Phosphoserine.
305Phosphoserine.
319Phosphoserine.
Location(AA) Modifications Resource
280Phosphoserine (By similarity).Swiss-Prot 53.0
287Phosphoserine.Swiss-Prot 53.0
287PhosphoserinePhospho.ELM 6.0
300Phosphoserine.Swiss-Prot 53.0
300PhosphoserinePhospho.ELM 6.0
319Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
40Phosphotyrosine(Jak)HMM predict
49Phosphoserine(PKG)HMM predict
49Phosphoserine(CK1)HMM predict
49Phosphoserine(CK2)HMM predict
49Phosphoserine(PKA)HMM predict
49PhosphoserineHMM predict
153Phosphoserine(CDC2)HMM predict
189Phosphoserine(IKK)HMM predict
189Phosphoserine(CK2)HMM predict
189Phosphoserine(ATM)HMM predict
191Phosphoserine(CK2)HMM predict
191O-linkedHMM predict
193Phosphoserine(CDC2)HMM predict
193Phosphoserine(IKK)HMM predict
195Phosphoserine(ATM)HMM predict
195Phosphoserine(IKK)HMM predict
195Phosphoserine(CK1)HMM predict
232Phosphoserine(PKG)HMM predict
243N-linkedHMM predict
254Phosphotyrosine(INSR)HMM predict
254Phosphotyrosine(Syk)HMM predict
268O-linkedHMM predict
269O-linkedHMM predict
270O-linkedHMM predict
270Phosphoserine(CK1)HMM predict
271Phosphoserine(IKK)HMM predict
272O-linkedHMM predict
274Phosphoserine(CK1)HMM predict
287Phosphoserine(ATM)HMM predict
300Phosphoserine(ATM)HMM predict
303Phosphoserine(IKK)HMM predict
303Phosphoserine(CDK)HMM predict
303O-linkedHMM predict
303O-linkedHMM predict
305Phosphoserine(IKK)HMM predict
319Phosphoserine(CDC2)HMM predict
322Phosphothreonine(PKC)HMM predict
332O-linkedHMM predict
333O-linkedHMM predict
333Phosphoserine(CDK)HMM predict
333Phosphoserine(CDC2)HMM predict
335O-linkedHMM predict
335Phosphoserine(CDC2)HMM predict
335Phosphoserine(IKK)HMM predict
337Phosphoserine(ATM)HMM predict
337Phosphoserine(CK1)HMM predict
339O-linkedHMM predict
340Phosphoserine(IKK)HMM predict
360O-linkedHMM predict
364Phosphothreonine(MAPK)HMM predict
366O-linkedHMM predict
420N-linkedHMM predict
460O-linkedHMM predict
462O-linkedHMM predict
462O-linkedHMM predict
469O-linkedHMM predict
469O-linkedHMM predict
469Phosphoserine(IKK)HMM predict
469Phosphoserine(CDC2)HMM predict
471O-linkedHMM predict
472Phosphoserine(IKK)HMM predict
472O-linkedHMM predict
472O-linkedHMM predict
472Phosphoserine(MAPK)HMM predict
472O-linkedHMM predict
474O-linkedHMM predict
475Phosphotyrosine(INSR)HMM predict
475Phosphotyrosine(Jak)HMM predict
475Phosphotyrosine(Abl)HMM predict
476O-linkedHMM predict
477Phosphothreonine(MAPK)HMM predict
477O-linkedHMM predict
477Phosphothreonine(CDK)HMM predict
479O-linkedHMM predict
480O-linkedHMM predict
481Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005595
  • Location:chr1 61320882-61694616
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 61318290 61318669 379 2403
Fos K562GSE19551 61315936 61316603 667 4613
H3K4me3 colorectalcancer 61314880 61316162 1282 5362
H3K4me3 colorectalcancer 61318849 61319249 400 1834
H3ac HepG2E 61318813 61320163 1350 1395
RARA MCF7GSE15244 61314816 61315713 897 5618
TAF k562GSE8489 61315816 61317335 1519 4307
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 61700739 61701085 346 6296
hScc1 BcellGSE12603 61697597 61698126 529 3245
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 61691596 61691906 310 0
CTCF CD4SISSRdata 61691596 61691906 310 0
CTCF HelaGSE12889 61691696 61691948 252 0
CTCF G2GSE9613 61576376 61577048 672 0
CTCF G2GSE9613 61691597 61692235 638 0
ER E2-MCF7GSE14664 61444932 61444970 38 0
ER Fulvestrant-MCF7GSE14664 61444932 61444968 36 0
ER MCF7GSE19013 61453830 61454634 804 0
FOXA1 MCF7GSE15244 61381031 61381610 579 0
FOXA1 MCF7GSE15244 61421537 61422915 1378 0
FOXA1 MCF7GSE15244 61454028 61454581 553 0
FOXA1 MCF7GSE15244 61560736 61561576 840 0
FOXA1 MCF7GSE15244 61576055 61576801 746 0
Fos K562GSE19551 61422272 61422897 625 0
Fos K562GSE19551 61508895 61509817 922 0
FoxA1 MCF7MACSdata 61381156 61381460 304 0
FoxA1 MCF7MACSdata 61387698 61388006 308 0
FoxA1 MCF7MACSdata 61537814 61538037 223 0
FoxA1 MCF7MACSdata 61561115 61561288 173 0
FoxA1 MCF7MACSdata 61592148 61592373 225 0
H3K4me3 colorectalcancer 61322187 61322969 782 0
H3ac HepG2E 61322057 61323125 1068 0
H3ac HepG2E 61356485 61356874 389 0
KLF4 hESGSE17917 61691420 61691744 324 0
Myc K562GSE19551 61359160 61359598 438 0
Myc K562GSE19551 61491194 61492025 831 0
Myc K562GSE19551 61630910 61631507 597 0
Nanog ESGSE20650 61557909 61558497 588 0
Nanog hESGSE18292 61486380 61487070 690 0
Nanog hESGSE18292 61557889 61558653 764 0
Nanog hESGSE18292 61630715 61631183 468 0
Oct1 H2O2-HelaGSE14283 61460991 61461028 37 0
Oct1 H2O2-HelaGSE14283 61596516 61596547 31 0
Oct1 HelaGSE14283 61341066 61341147 81 0
Oct1 HelaGSE14283 61381530 61381564 34 0
Oct1 HelaGSE14283 61390006 61390071 65 0
Oct1 HelaGSE14283 61390089 61390124 35 0
Oct1 HelaGSE14283 61460991 61461037 46 0
Oct1 HelaGSE14283 61548417 61548450 33 0
Oct1 HelaGSE14283 61596516 61596547 31 0
Oct1 HelaGSE14283 61680687 61680714 27 0
P300 T30-glioblastomaGSE21026 61576019 61576920 901 0
RARA MCF7GSE15244 61379472 61380605 1133 0
RARA MCF7GSE15244 61408105 61409225 1120 0
RARA MCF7GSE15244 61421537 61422485 948 0
RARA MCF7GSE15244 61453883 61454884 1001 0
RARA MCF7GSE15244 61491278 61491857 579 0
RARA MCF7GSE15244 61509100 61509914 814 0
RARA MCF7GSE15244 61560487 61561397 910 0
RARA MCF7GSE15244 61576159 61577048 889 0
RARA MCF7GSE15244 61642033 61643175 1142 0
RARA MCF7GSE15244 61683816 61685247 1431 0
RARA MCF7GSE15244 61690820 61692798 1978 0
RARG MCF7GSE15244 61408269 61408981 712 0
RARG MCF7GSE15244 61421537 61422519 982 0
RARG MCF7GSE15244 61453960 61454702 742 0
TAF HelaGSE8489 61517279 61517780 501 0
TAF k562GSE8489 61322141 61323648 1507 0
TAF k562GSE8489 61357719 61360649 2930 0
TAF k562GSE8489 61410373 61411162 789 0
TFAP2C MCF7GSE21234 61377663 61378131 468 0
USF1 HepG2E 61421852 61423204 1352 0
USF2 HepG2E 61421748 61423053 1305 0
hScc1 BcellGSE12603 61320761 61322187 1426 0
hScc1 BcellGSE12603 61576520 61576765 245 0
hScc1 BcellGSE12603 61691597 61692017 420 0
hScc1 CdLSGSE12603 61556914 61557385 471 0
hScc1 CdLSGSE12603 61576276 61577015 739 0
hScc1 CdLSGSE12603 61691447 61692272 825 0
hScc1 G2GSE9613 61576376 61576979 603 0
hScc1 G2GSE9613 61691338 61692043 705 0
p63 keratinocytesGSE17611 61576091 61577430 1339 0
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
233 Unknown TRUE miR-107 NFIA / NF1-A n_a 17260024
555 mRNA repression TRUE miR-223 NFIA in vitro reporter gene assay (Luciferase) 16325577
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000162599 mesenchymal-epithelial transition (MET) n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
ENSG00000162599 n_a n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
882 mRNA NFIA chr1 61260315 61634057 4519 EST chr1 61426637 61431156 Non-exonic Bidirectional (NOB) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018