AutismKB 2.0

Annotation Detail for NFAM1


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Basic Information Top
Gene Symbol:NFAM1 ( CNAIP,FLJ40652,bK126B4.4 )
Gene Full Name: NFAT activating protein with ITAM motif 1
Band: 22q13.2
Quick LinksEntrez ID:150372; OMIM: 608740; Uniprot ID:NFAM1_HUMAN; ENSEMBL ID: ENSG00000235568; HGNC ID: 29872
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
107N-linked (GlcNAc...) (Potential).
220Phosphotyrosine (Probable).
231Phosphotyrosine (Probable).
267Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
107N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
220Phosphotyrosine (Probable).Swiss-Prot 53.0
231Phosphotyrosine (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
92Phosphoserine(CDK)HMM predict
92Phosphoserine(CDC2)HMM predict
97Phosphothreonine(PKA)HMM predict
107N-linkedHMM predict
132Phosphoserine(ATM)HMM predict
154Phosphotyrosine(EGFR)HMM predict
160Phosphoserine(CDC2)HMM predict
199Phosphothreonine(PKC)HMM predict
207Phosphoserine(IKK)HMM predict
209Phosphoserine(IKK)HMM predict
209Phosphoserine(PKB)HMM predict
210Phosphoserine(CDC2)HMM predict
210O-linkedHMM predict
216O-linkedHMM predict
220Phosphotyrosine(SRC)HMM predict
228Phosphothreonine(PKA)HMM predict
231Phosphotyrosine(INSR)HMM predict
247Phosphoserine(IKK)HMM predict
250Phosphoserine(ATM)HMM predict
257PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145912
  • Location:chr22 41108916-41158339
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41163475 41163836 361 5316
CTCF CD4GSE12889 41170440 41170620 180 12191
CTCF CD4SISSRdata 41163475 41163836 361 5316
CTCF CD4SISSRdata 41170440 41170620 180 12191
CTCF HelaGSE12889 41170309 41170708 399 12169
CTCF JurkatGSE12889 41170336 41170747 411 12202
CTCF G2GSE9613 41159031 41159222 191 787
CTCF G2GSE9613 41163408 41164261 853 5495
CTCF G2GSE9613 41166828 41167015 187 8582
CTCF G2GSE9613 41170175 41170873 698 12185
NFkBII GM12878GSE19485 41163209 41166728 3519 6629
NFkBII GM15510GSE19485 41163255 41164772 1517 5674
P300 T0-glioblastomaGSE21026 41169943 41170581 638 11923
RARA MCF7GSE15244 41170596 41171269 673 12593
STAT1 IFNSISSRdata 41160690 41161285 595 2648
TFAP2C MCF7GSE21234 41159530 41160061 531 1456
hScc1 BcellGSE12603 41158964 41159222 258 754
hScc1 BcellGSE12603 41163408 41164100 692 5415
hScc1 BcellGSE12603 41166649 41167015 366 8493
hScc1 BcellGSE12603 41167362 41167710 348 9197
hScc1 BcellGSE12603 41169877 41170739 862 11969
hScc1 CdLSGSE12603 41163408 41164064 656 5397
hScc1 CdLSGSE12603 41169926 41170763 837 12005
hScc1 G2GSE9613 41163408 41164064 656 5397
hScc1 G2GSE9613 41170139 41170873 734 12167
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 41095073 41095658 585 13551
TFAP2C MCF7GSE21234 41094861 41095406 545 13783
hScc1 BcellGSE12603 41093806 41095041 1235 14493
p130 shRbSenescentGSE19898 41095414 41095628 214 13396
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 41138505 41139052 547 0
Myc hESGSE17917 41128534 41128718 184 0
hScc1 BcellGSE12603 41112409 41113327 918 0
hScc1 BcellGSE12603 41115814 41116115 301 0
hScc1 BcellGSE12603 41145242 41145786 544 0
hScc1 BcellGSE12603 41152082 41152967 885 0
p63 keratinocytesGSE17611 41114931 41115776 845 0
p63 keratinocytesGSE17611 41151097 41152480 1383 0
Validated miRNA targets Top
Cis-Nats regulation Top

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


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