AutismKB 2.0

Annotation Detail for POMT1


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Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.13
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714; HGNC ID: 9202
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
435N-linked (GlcNAc...) (Potential).
471N-linked (GlcNAc...).
539N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
471N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
539N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphotyrosine(Syk)HMM predict
47SulfotyrosineHMM predict
64Phosphoserine(ATM)HMM predict
183Phosphoserine(CK1)HMM predict
260S-palmitoylHMM predict
328Phosphothreonine(PKC)HMM predict
390Phosphoserine(CDC2)HMM predict
408Phosphothreonine(PKC)HMM predict
422Phosphoserine(MAPK)HMM predict
425Phosphoserine(ATM)HMM predict
515Phosphotyrosine(SRC)HMM predict
515Phosphotyrosine(Abl)HMM predict
518Phosphoserine(ATM)HMM predict
541Phosphoserine(PKA)HMM predict
565Phosphotyrosine(SRC)HMM predict
715Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001077365
  • Location:chr9 133368109-133389012
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 133350565 133350892 327 17381
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 133368639 133369918 1279 0
GABP k562GSE8489 133380726 133381684 958 0
H3ac HepG2E 133368778 133369918 1140 0
PHF8 HeLaGSE20725 133367663 133368938 1275 0
SRF k562GSE8489 133380686 133381858 1172 0
TAF HelaGSE8489 133369487 133369918 431 0
hScc1 BcellGSE12603 133379073 133379816 743 0
hScc1 BcellGSE12603 133380805 133381551 746 0
hScc1 BcellGSE12603 133387236 133387483 247 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
27133 mRNA POMT1 chr9 131407865 131428746 57 EST chr9 131421498 131427170Sense/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