AutismKB 2.0

Annotation Detail for FANCA


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Basic Information Top
Gene Symbol:FANCA ( FA,FA-H,FA1,FAA,FACA,FAH,FANCH,MGC75158 )
Gene Full Name: Fanconi anemia, complementation group A
Band: 16q24.3
Quick LinksEntrez ID:2175; OMIM: 607139; Uniprot ID:FANCA_HUMAN; ENSEMBL ID: ENSG00000187741; HGNC ID: 3582
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
34Nuclear localization signal (Potential).
849Phosphoserine.
850Phosphoserine.
858Phosphoserine.
1449Phosphoserine.
Location(AA) Modifications Resource
1149Phosphoserine (PKB
Location(AA) Modification Resource
35Phosphotyrosine(Jak)HMM predict
86Phosphotyrosine(Syk)HMM predict
86Phosphotyrosine(INSR)HMM predict
88N-linkedHMM predict
290Phosphoserine(CK1)HMM predict
488Phosphotyrosine(Jak)HMM predict
488Phosphotyrosine(Abl)HMM predict
510Phosphotyrosine(INSR)HMM predict
545Phosphoserine(IKK)HMM predict
578Phosphotyrosine(Jak)HMM predict
579Phosphotyrosine(Jak)HMM predict
589Phosphothreonine(MAPK)HMM predict
663Phosphoserine(IKK)HMM predict
695Phosphoserine(CK1)HMM predict
696Phosphoserine(CK1)HMM predict
696Phosphoserine(IKK)HMM predict
696Phosphoserine(ATM)HMM predict
766S-palmitoylHMM predict
833S-palmitoylHMM predict
947Phosphoserine(CK1)HMM predict
1041Phosphothreonine(MAPK)HMM predict
1041Phosphothreonine(CDK)HMM predict
1043Phosphoserine(ATM)HMM predict
1064Phosphoserine(IKK)HMM predict
1183S-palmitoylHMM predict
1217Phosphoserine(CDC2)HMM predict
1275O-linkedHMM predict
1276N-linkedHMM predict
1301Phosphoserine(PKG)HMM predict
1361Phosphotyrosine(Jak)HMM predict
1374Phosphoserine(IKK)HMM predict
1438O-linkedHMM predict
1449Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000135
  • Location:chr16 88331459-88410565
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 88346587 88346718 131 0
CTCF CD4GSE12889 88387076 88387423 347 0
CTCF CD4SISSRdata 88346587 88346718 131 0
CTCF CD4SISSRdata 88387076 88387423 347 0
CTCF G2GSE9613 88365961 88366316 355 0
Nanog hESGSE18292 88373855 88374101 246 0
RARA MCF7GSE15244 88339133 88339805 672 0
TAF HelaGSE8489 88365395 88365610 215 0
TFAP2C MCF7GSE21234 88376312 88376724 412 0
TFAP2C MCF7GSE21234 88382789 88383297 508 0
hScc1 BcellGSE12603 88339466 88339841 375 0
Validated miRNA targets Top
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
10415 mRNA ZFP276 chr16 88314933 88333811 1159 mRNA FANCA chr16 88331459 88410555Sense/Antisense (SA) 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


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