AutismKB 2.0

Annotation Detail for THUMPD1


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Basic Information Top
Gene Symbol:THUMPD1 ( DKFZp686C1054 )
Gene Full Name: THUMP domain containing 1
Band: 16p12.3
Quick LinksEntrez ID:55623; OMIM: NA; Uniprot ID:THUM1_HUMAN; ENSEMBL ID: ENSG00000066654; HGNC ID: 23807
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
86Phosphoserine.
88Phosphoserine.
Location(AA) Modifications Resource
86Phosphoserine.Swiss-Prot 53.0
88Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
62Phosphotyrosine(SRC)HMM predict
63Phosphoserine(CK1)HMM predict
151Phosphothreonine(PKC)HMM predict
156Phosphothreonine(PKA)HMM predict
204N-linkedHMM predict
205N-linkedHMM predict
209N-linkedHMM predict
237Phosphotyrosine(SRC)HMM predict
270Phosphoserine(CDC2)HMM predict
275Phosphoserine(IKK)HMM predict
298N-linkedHMM predict
299N-linkedHMM predict
347Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017736
  • Location:chr16 20652489-20660699
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 20665742 20666461 719 5402
Oct1 H2O2-HelaGSE14283 20667182 20667210 28 6497
Oct1 HelaGSE14283 20664303 20664332 29 3618
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 20636919 20636951 32 15555
Myc hESGSE17917 20639861 20640153 292 12483
Myc hESGSE17917 20640996 20641325 329 11329
Oct1 HelaGSE14283 20648425 20648473 48 4041
PAX3-FKHR RDGSE19063 20639751 20640513 762 12358
hScc1 BcellGSE12603 20644056 20644324 268 8300
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 20660094 20660709 615 0
ETS1 JurkatGSE17954 20659812 20661110 1298 0
H3K4me3 colorectalcancer 20659249 20659686 437 0
H3ac HepG2E 20659249 20659686 437 0
P300 T30-glioblastomaGSE21026 20659653 20661168 1515 0
PHF8 HeLaGSE20725 20659731 20661205 1474 0
hScc1 BcellGSE12603 20660094 20660846 752 0
hScc1 CdLSGSE12603 20659249 20659474 225 0
hScc1 CdLSGSE12603 20660094 20660846 752 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