AutismKB 2.0

Annotation Detail for FANCM


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FANCM ( FAAP250,KIAA1596,MGC176453 )
Gene Full Name: Fanconi anemia, complementation group M
Band: 14q21.2
Quick LinksEntrez ID:57697; OMIM: 609644; Uniprot ID:FANCM_HUMAN; ENSEMBL ID: ENSG00000187790; HGNC ID: 23168
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
217DEAH box.
1437Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29O-linkedHMM predict
34Phosphoserine(CDC2)HMM predict
34PhosphoserineHMM predict
34Phosphoserine(IKK)HMM predict
34Phosphoserine(ATM)HMM predict
38O-linkedHMM predict
176Phosphothreonine(PKC)HMM predict
328N-linkedHMM predict
346Phosphoserine(CDC2)HMM predict
425Phosphoserine(PKB)HMM predict
425Phosphoserine(IKK)HMM predict
426Phosphothreonine(PKA)HMM predict
427Phosphoserine(PKA)HMM predict
427O-linkedHMM predict
468N-linkedHMM predict
484Phosphoserine(CDK)HMM predict
497Phosphoserine(ATM)HMM predict
598Phosphotyrosine(EGFR)HMM predict
599N-linkedHMM predict
604N-linkedHMM predict
661Phosphoserine(PKG)HMM predict
672Phosphoserine(PKG)HMM predict
883N-linkedHMM predict
888N-linkedHMM predict
901Phosphoserine(CK2)HMM predict
901Phosphoserine(CK1)HMM predict
931N-linkedHMM predict
936Phosphoserine(IKK)HMM predict
948Phosphoserine(CK2)HMM predict
954Phosphoserine(CK1)HMM predict
977Phosphotyrosine(EGFR)HMM predict
997Phosphoserine(ATM)HMM predict
1005Phosphoserine(CK2)HMM predict
1073N-linkedHMM predict
1075Phosphoserine(CK2)HMM predict
1079Phosphoserine(IKK)HMM predict
1150Phosphoserine(CDK)HMM predict
1150Phosphoserine(CDC2)HMM predict
1154Phosphoserine(CK1)HMM predict
1158Phosphoserine(CK1)HMM predict
1186N-linkedHMM predict
1187N-linkedHMM predict
1241Phosphoserine(CK2)HMM predict
1274Phosphotyrosine(INSR)HMM predict
1288N-linkedHMM predict
1322Phosphoserine(ATM)HMM predict
1322Phosphoserine(MAPK)HMM predict
1325Phosphotyrosine(Jak)HMM predict
1326Phosphoserine(ATM)HMM predict
1339Phosphothreonine(MAPK)HMM predict
1344Phosphoserine(IKK)HMM predict
1378N-linkedHMM predict
1391Phosphoserine(CK1)HMM predict
1405Phosphoserine(CK1)HMM predict
1415N-linkedHMM predict
1417Phosphoserine(CK2)HMM predict
1461N-linkedHMM predict
1466Phosphoserine(CK2)HMM predict
1468Phosphoserine(CK1)HMM predict
1468Phosphoserine(ATM)HMM predict
1519PhosphoserineHMM predict
1519Phosphoserine(CK1)HMM predict
1519Phosphoserine(CK2)HMM predict
1525Phosphotyrosine(INSR)HMM predict
1525SulfotyrosineHMM predict
1525Phosphotyrosine(Jak)HMM predict
1527Phosphoserine(CK2)HMM predict
1528Phosphoserine(CK2)HMM predict
1534Phosphoserine(CK1)HMM predict
1534Phosphoserine(CK2)HMM predict
1601SulfotyrosineHMM predict
1601Phosphotyrosine(Syk)HMM predict
1619Phosphoserine(CK2)HMM predict
1619PhosphoserineHMM predict
1643Phosphothreonine(PKC)HMM predict
1673Phosphoserine(CK1)HMM predict
1673Phosphoserine(CK2)HMM predict
1674Phosphoserine(IKK)HMM predict
1674Phosphoserine(CK1)HMM predict
1674PhosphoserineHMM predict
1691N-linkedHMM predict
1710O-linkedHMM predict
1712O-linkedHMM predict
1731Phosphoserine(PKG)HMM predict
1760Phosphothreonine(MAPK)HMM predict
1783Phosphoserine(CK2)HMM predict
1788Phosphoserine(CK1)HMM predict
1788O-linkedHMM predict
1789Phosphoserine(CK1)HMM predict
1794O-linkedHMM predict
1867Phosphoserine(PKG)HMM predict
1869Phosphoserine(PKG)HMM predict
1949Phosphoserine(CK1)HMM predict
2002N-linkedHMM predict
2003Phosphoserine(PKG)HMM predict
2025SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020937
  • Location:chr14 44674899-44739836
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 44674308 44675427 1119 32
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 44674553 44675552 999 0
E2F4 SGSE7516 44674634 44675443 809 0
GABP HelaGSE8489 44673512 44677173 3661 0
GABP k562GSE8489 44673483 44677104 3621 0
H3K4me3 colorectalcancer 44673818 44676020 2202 0
H3ac HepG2E 44675020 44675552 532 0
H3ac HepG2E 44676297 44677346 1049 0
LIN54 G0GSE7516 44674553 44675361 808 0
LIN9 G0GSE7516 44674329 44676053 1724 0
LIN9 SGSE7516 44674553 44676297 1744 0
Oct1 H2O2-HelaGSE14283 44684878 44684905 27 0
Oct1 H2O2-HelaGSE14283 44734689 44734744 55 0
Oct1 HelaGSE14283 44734692 44734737 45 0
PHF8 293TGSE20725 44674460 44675515 1055 0
RARA MCF7GSE15244 44674667 44675479 812 0
RARG MCF7GSE15244 44674759 44675552 793 0
p130 QuiescentGSE19898 44674625 44675322 697 0
p130 SenescentGSE19898 44674615 44675515 900 0
p130 shRbQuiescentGSE19898 44674486 44675315 829 0
p130 shRbSenescentGSE19898 44674496 44675658 1162 0
p130 G0GSE7516 44674410 44675707 1297 0
p130 SGSE7516 44674634 44675624 990 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