AutismKB 2.0

Annotation Detail for KEL


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Basic Information Top
Gene Symbol:KEL ( CD238,ECE3 )
Gene Full Name: Kell blood group, metallo-endopeptidase
Band: 7q34
Quick LinksEntrez ID:3792; OMIM: 110900; Uniprot ID:KELL_HUMAN; ENSEMBL ID: ENSG00000197993; HGNC ID: 6308
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
94N-linked (GlcNAc...) (Potential).
115N-linked (GlcNAc...) (Potential).
191N-linked (GlcNAc...); in KEL2 antigen.
345N-linked (GlcNAc...) (Potential).
627N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
94N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
115N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
191N-linked (GlcNAc...); in KEL2 antigen.Swiss-Prot 53.0
345N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
627N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(IKK)HMM predict
25Phosphoserine(IKK)HMM predict
28Phosphoserine(CK2)HMM predict
29Phosphothreonine(MAPK)HMM predict
29Phosphothreonine(CK2)HMM predict
94N-linkedHMM predict
95O-linkedHMM predict
115N-linkedHMM predict
116N-linkedHMM predict
143PhosphoserineHMM predict
191N-linkedHMM predict
273Phosphoserine(CK1)HMM predict
275Phosphoserine(CK1)HMM predict
328O-linkedHMM predict
330Phosphoserine(CDC2)HMM predict
332Phosphoserine(ATM)HMM predict
389Phosphoserine(PKG)HMM predict
495Phosphotyrosine(Syk)HMM predict
542Phosphotyrosine(Syk)HMM predict
625Phosphoserine(IKK)HMM predict
627N-linkedHMM predict
668Phosphoserine(ATM)HMM predict
708O-linkedHMM predict
724N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000420
  • Location:chr7 142348324-142369624
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 142371240 142372228 988 2110
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 142353284 142353463 179 0
CTCF G2GSE9613 142367749 142368748 999 0
Gata2 K562GSE18868 142368765 142369905 1140 0
Oct1 H2O2-HelaGSE14283 142361787 142361819 32 0
Oct1 HelaGSE14283 142361785 142361820 35 0
STAT1 HeLaGSE12782 142363776 142365000 1224 0
STAT1 HeLaGSE12783 142363810 142364966 1156 0
STAT1 IFNSISSRdata 142363973 142364931 958 0
p63 keratinocytesGSE17611 142350698 142351676 978 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
24764 mRNA C7orf34 chr7 142153491 142163761 8722 mRNA KEL chr7 142155039 142176340 Non-exonic Bidirectional (NOB) 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