AutismKB 2.0

Annotation Detail for NCKAP1L


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Basic Information Top
Gene Symbol:NCKAP1L ( HEM1 )
Gene Full Name: NCK-associated protein 1-like
Band: 12q13.13-q13.2
Quick LinksEntrez ID:3071; OMIM: 141180; Uniprot ID:NCKPL_HUMAN; ENSEMBL ID: ENSG00000123338; HGNC ID: 4862
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
69N-linkedHMM predict
106Phosphotyrosine(SRC)HMM predict
267S-palmitoylHMM predict
270S-palmitoylHMM predict
290Phosphotyrosine(INSR)HMM predict
305Phosphothreonine(PKA)HMM predict
310Phosphoserine(CK1)HMM predict
389N-linkedHMM predict
395Phosphothreonine(MAPK)HMM predict
399Phosphotyrosine(INSR)HMM predict
399Phosphotyrosine(Syk)HMM predict
447N-linkedHMM predict
464Phosphoserine(IKK)HMM predict
650Phosphothreonine(MAPK)HMM predict
682N-linkedHMM predict
728N-linkedHMM predict
827Phosphoserine(CK2)HMM predict
832Phosphoserine(CK1)HMM predict
884N-linkedHMM predict
909Phosphothreonine(PKA)HMM predict
988Phosphoserine(CK2)HMM predict
994Phosphotyrosine(SRC)HMM predict
994Phosphotyrosine(Syk)HMM predict
1026Phosphotyrosine(INSR)HMM predict
1079Phosphothreonine(PKC)HMM predict
1117Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005337
  • Location:chr12 53177795-53223164
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53177578 53177807 229 103
CTCF CD4SISSRdata 53177578 53177807 229 103
CTCF G2GSE9613 53177489 53177767 278 168
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 53207152 53207403 251 0
CTCF CD4SISSRdata 53207152 53207403 251 0
CTCF G2GSE9613 53203939 53204154 215 0
CTCF G2GSE9613 53206532 53207609 1077 0
CTCF G2GSE9613 53220296 53220698 402 0
FOXA1 MCF7GSE15244 53192632 53193123 491 0
Fos K562GSE19551 53177400 53178211 811 0
hScc1 G2GSE9613 53207010 53207659 649 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


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