AutismKB 2.0

Annotation Detail for IMPDH1


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Basic Information Top
Gene Symbol:IMPDH1 ( DKFZp781N0678,IMPD,IMPD1,LCA11,RP10,sWSS2608 )
Gene Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 1
Band: 7q32.1
Quick LinksEntrez ID:3614; OMIM: 146690; Uniprot ID:IMDH1_HUMAN; ENSEMBL ID: ENSG00000106348; HGNC ID: 6052
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
12Phosphotyrosine(Jak)HMM predict
12Phosphotyrosine(INSR)HMM predict
60Phosphothreonine(PKA)HMM predict
94N-linkedHMM predict
122Phosphoserine(CDK)HMM predict
122Phosphoserine(CDC2)HMM predict
159Phosphothreonine(PKC)HMM predict
276Phosphoserine(ATM)HMM predict
329Phosphoserine(IKK)HMM predict
348Phosphotyrosine(SRC)HMM predict
369Phosphothreonine(PKC)HMM predict
425Phosphoserine(CDC2)HMM predict
426Phosphoserine(CK1)HMM predict
477Phosphoserine(CK1)HMM predict
477PhosphoserineHMM predict
494Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000883
  • Location:chr7 127819567-127837541
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 127853017 127853354 337 15644
CTCF CD4SISSRdata 127853017 127853354 337 15644
CTCF G2GSE9613 127842418 127842710 292 5023
CTCF G2GSE9613 127845993 127846784 791 8847
CTCF G2GSE9613 127847132 127847363 231 9706
CTCF G2GSE9613 127853108 127853410 302 15718
Oct1 H2O2-HelaGSE14283 127837721 127837752 31 195
Sox2 hESGSE18292 127854704 127855116 412 17369
TFAP2C MCF7GSE21234 127850829 127851431 602 13589
hScc1 BcellGSE12603 127853108 127853484 376 15755
hScc1 CdLSGSE12603 127853108 127853484 376 15755
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 QuiescentGSE19898 127837316 127837634 318 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 17724173
hsa-miR-124 hsa-mir-124-2 8 17724173
hsa-miR-124 hsa-mir-124-3 20 17724173
hsa-miR-135a hsa-mir-135a-1 3 17724173
hsa-miR-135a hsa-mir-135a-2 12 17724173
hsa-miR-135b hsa-mir-135b 1 17724173
hsa-miR-135b* hsa-mir-135b 1 17724173
hsa-miR-29a hsa-mir-29a 7 17724173
hsa-miR-29a* hsa-mir-29a 7 17724173
hsa-miR-29b hsa-mir-29b-1 7 17724173
hsa-miR-29b hsa-mir-29b-2 1 17724173
hsa-miR-29b-1* hsa-mir-29b-1 7 17724173
hsa-miR-29b-2* hsa-mir-29b-2 1 17724173
hsa-miR-29c hsa-mir-29c 1 17724173
hsa-miR-29c* hsa-mir-29c 1 17724173
hsa-miR-7 hsa-mir-7-1 9 17724173
hsa-miR-7 hsa-mir-7-2 15 17724173
hsa-miR-7 hsa-mir-7-3 19 17724173
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
580 Unknown FALSE miR-29 IMPDH1 Luciferase assay 17724173
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000106348 n_a n_a n_a lymphocyte "benign tumour, malignant tumour, carcinoma, sarcoma"
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
24605 EST chr7 127620686 127626352 70 mRNA IMPDH1 chr7 127626282 127644257Sense/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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