AutismKB 2.0

Annotation Detail for FANCD2


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Basic Information Top
Gene Symbol:FANCD2 ( DKFZp762A223,FA-D2,FA4,FACD,FAD,FAD2,FANCD,FLJ23826 )
Gene Full Name: Fanconi anemia, complementation group D2
Band: 3p25.3
Quick LinksEntrez ID:2177; OMIM: 227646; Uniprot ID:FACD2_HUMAN; ENSEMBL ID: ENSG00000144554; HGNC ID: 3585
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
21Phosphoserine.
167Phosphoserine.
178Phosphoserine.
222Phosphoserine; by ATM.
592Phosphoserine.
596Phosphothreonine.
684Phosphotyrosine.
717Phosphoserine.
1401Phosphoserine; by ATM (Probable).
1404Phosphoserine; by ATM.
1412Phosphoserine.
1418Phosphoserine.
Location(AA) Modifications Resource
222Phosphoserine (by ATM).Swiss-Prot 53.0
222Phosphoserine (ATM)Phospho.ELM 6.0
561Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
592PhosphoserinePhospho.ELM 6.0
592Phosphoserine.Swiss-Prot 53.0
717Phosphoserine.Swiss-Prot 53.0
717PhosphoserinePhospho.ELM 6.0
1257Phosphoserine (ATM)Phospho.ELM 6.0
1401Phosphoserine (by ATM) (Probable).Swiss-Prot 53.0
1404Phosphoserine (by ATM).Swiss-Prot 53.0
1412PhosphoserinePhospho.ELM 6.0
1412Phosphoserine.Swiss-Prot 53.0
1418Phosphoserine (by ATM) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphoserine(CAMK2)HMM predict
8Phosphoserine(PKG)HMM predict
8Phosphoserine(PKC)HMM predict
8PhosphoserineHMM predict
8Phosphoserine(CK1)HMM predict
15Phosphoserine(CK1)HMM predict
23Phosphothreonine(PKC)HMM predict
88Phosphoserine(PKB)HMM predict
88Phosphoserine(PKA)HMM predict
98Phosphoserine(CK2)HMM predict
222Phosphoserine(ATM)HMM predict
238N-linkedHMM predict
330Phosphoserine(PKG)HMM predict
331Phosphoserine(PKC)HMM predict
445Phosphoserine(IKK)HMM predict
523N-linkedHMM predict
548Phosphoserine(CK1)HMM predict
592Phosphoserine(IKK)HMM predict
594Phosphoserine(CK1)HMM predict
601N-linkedHMM predict
689Phosphotyrosine(INSR)HMM predict
689Phosphotyrosine(Syk)HMM predict
717Phosphoserine(ATM)HMM predict
726Phosphoserine(MAPK)HMM predict
877Phosphoserine(IKK)HMM predict
882Phosphoserine(CK2)HMM predict
886Phosphoserine(CK1)HMM predict
891Phosphoserine(IKK)HMM predict
896Phosphothreonine(MAPK)HMM predict
896Phosphothreonine(CDK)HMM predict
898Phosphoserine(MAPK)HMM predict
908Phosphothreonine(CK2)HMM predict
973Phosphoserine(ATM)HMM predict
1079Phosphoserine(ATM)HMM predict
1104Phosphoserine(ATM)HMM predict
1112Phosphoserine(CK1)HMM predict
1112Phosphoserine(ATM)HMM predict
1220O-linkedHMM predict
1221O-linkedHMM predict
1257Phosphoserine(ATM)HMM predict
1267Phosphotyrosine(INSR)HMM predict
1326Phosphoserine(CK1)HMM predict
1401Phosphoserine(CK1)HMM predict
1404Phosphoserine(IKK)HMM predict
1407Phosphoserine(CK2)HMM predict
1408Phosphothreonine(CK2)HMM predict
1412Phosphoserine(CK2)HMM predict
1412PhosphoserineHMM predict
1417Phosphoserine(CK1)HMM predict
1417Phosphoserine(CK2)HMM predict
1418Phosphoserine(ATM)HMM predict
1457TyrosineHMM predict
1470ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033084
  • Location:chr3 10043112-10116342
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 10039934 10040300 366 2996
E2F4 SGSE7516 10042748 10043389 641 44
ETS1 JurkatGSE17954 10042452 10043764 1312 5
FOXA1 MCF7GSE15244 10042668 10043461 793 48
H3K4me3 colorectalcancer 10042258 10042712 454 628
KLF4 hESGSE17917 10042872 10043172 300 91
LIN54 SGSE7516 10042748 10043353 605 62
P300 T30-glioblastomaGSE21026 10042510 10043625 1115 45
PHF8 293TGSE20725 10042415 10043675 1260 68
PHF8 HeLaGSE20725 10042525 10043523 998 89
RARA MCF7GSE15244 10042156 10042974 818 548
RARG MCF7GSE15244 10042357 10043461 1104 204
TAFII hESGSE17917 10042704 10043222 518 150
p130 SGSE7516 10042668 10043498 830 30
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 10042668 10044029 1361 0
ER E2-MCF7GSE14664 10079125 10079161 36 0
FOXA1 MCF7GSE15244 10081990 10082886 896 0
H3K4me3 colorectalcancer 10043171 10043353 182 0
H3ac HepG2E 10042222 10044280 2058 0
LIN54 G0GSE7516 10042712 10043887 1175 0
LIN9 G0GSE7516 10042392 10044245 1853 0
LIN9 SGSE7516 10042392 10044280 1888 0
Oct1 H2O2-HelaGSE14283 10079125 10079156 31 0
Oct1 H2O2-HelaGSE14283 10079811 10079837 26 0
Oct1 HelaGSE14283 10079126 10079163 37 0
Oct1 HelaGSE14283 10084204 10084248 44 0
Rb SenescentGSE19898 10042871 10043411 540 0
Rb shRbQuiescentGSE19898 10043048 10043274 226 0
hScc1 BcellGSE12603 10042974 10043307 333 0
p130 QuiescentGSE19898 10042948 10043625 677 0
p130 SenescentGSE19898 10042908 10043646 738 0
p130 shRbQuiescentGSE19898 10042668 10043846 1178 0
p130 shRbSenescentGSE19898 10042734 10043616 882 0
p130 G0GSE7516 10042668 10044137 1469 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
17753 mRNA FANCD2 chr3 10043127 10116344 119 mRNA MGC40179 chr3 10098004 10124915Sense/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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