AutismKB 2.0

Annotation Detail for SAMHD1


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Basic Information Top
Gene Symbol:SAMHD1 ( DCIP,HDDC1,MOP-5,SBBI88 )
Gene Full Name: SAM domain and HD domain 1
Band: 20q11.23
Quick LinksEntrez ID:25939; OMIM: 606754; Uniprot ID:SAMH1_HUMAN; ENSEMBL ID: ENSG00000101347; HGNC ID: 15925
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
18Phosphoserine (By similarity).
21Phosphothreonine (By similarity).
25Phosphothreonine (By similarity).
33Phosphoserine.
592Phosphothreonine.
Location(AA) Modifications Resource
1N-acetylmethionine.Swiss-Prot 53.0
18Phosphoserine (By similarity).Swiss-Prot 53.0
21Phosphothreonine (By similarity).Swiss-Prot 53.0
25Phosphothreonine (By similarity).Swiss-Prot 53.0
592Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
18Phosphoserine(CDC2)HMM predict
21Phosphothreonine(CDC2)HMM predict
21Phosphothreonine(MAPK)HMM predict
21O-linkedHMM predict
21Phosphothreonine(CDK)HMM predict
23Phosphoserine(MAPK)HMM predict
23Phosphoserine(IKK)HMM predict
23Phosphoserine(PKB)HMM predict
25O-linkedHMM predict
25Phosphothreonine(MAPK)HMM predict
42SulfotyrosineHMM predict
331Phosphotyrosine(EGFR)HMM predict
396Phosphotyrosine(EGFR)HMM predict
396Phosphotyrosine(INSR)HMM predict
473Phosphotyrosine(EGFR)HMM predict
473Phosphotyrosine(Syk)HMM predict
473Phosphotyrosine(INSR)HMM predict
577N-linkedHMM predict
592Phosphothreonine(CDK)HMM predict
599N-linkedHMM predict
606N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015474
  • Location:chr20 34954058-35013589
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 35013725 35014243 518 395
H3ac HepG2E 35019711 35019991 280 6262
HIF1 NormHepG2 35013314 35013933 619 34
TFAP2C MCF7GSE21234 35013326 35013970 644 59
p130 QuiescentGSE19898 35013546 35014068 522 218
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34981460 34981924 464 0
CTCF CD4SISSRdata 34981460 34981924 464 0
CTCF G2GSE9613 35012770 35013131 361 0
H3K4me3 colorectalcancer 35011966 35012874 908 0
H3ac HepG2E 35011930 35013031 1101 0
HIF1 HypoHepG2 35013131 35013859 728 0
Myc K562GSE19551 34981606 34981836 230 0
Nanog hESGSE18292 34973365 34973780 415 0
Nanog hESGSE18292 35008794 35009208 414 0
P300 T30-glioblastomaGSE21026 34994545 34995165 620 0
P300 T30-glioblastomaGSE21026 35006088 35006724 636 0
Rb QuiescentGSE19898 35013419 35013718 299 0
Rb SenescentGSE19898 35013131 35013870 739 0
hScc1 BcellGSE12603 34981690 34981912 222 0
hScc1 BcellGSE12603 35012624 35013473 849 0
p130 SenescentGSE19898 35013291 35013868 577 0
p130 shRbSenescentGSE19898 35012919 35013878 959 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
16331 mRNA C20orf118 chr20 34937983 34956046 205 mRNA SAMHD1 chr20 34954058 35013590Sense/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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