AutismKB 2.0

Annotation Detail for ERC1


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Basic Information Top
Gene Symbol:ERC1 ( Cast2,ELKS,FLJ31750,KIAA1081,MGC12974,RAB6IP2 )
Gene Full Name: ELKS/RAB6-interacting/CAST family member 1
Band: 12p13.33
Quick LinksEntrez ID:23085; OMIM: 607127; Uniprot ID:RB6I2_HUMAN; ENSEMBL ID: ENSG00000082805; HGNC ID: 17072
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
17Phosphoserine.
21Phosphoserine.
75Phosphoserine.
191Phosphoserine.
252Phosphoserine (By similarity).
1046Phosphothreonine.
Location(AA) Modifications Resource
17Phosphoserine.Swiss-Prot 53.0
21Phosphoserine.Swiss-Prot 53.0
252Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
14O-linkedHMM predict
15Phosphoserine(ATM)HMM predict
17PhosphoserineHMM predict
17Phosphoserine(CDC2)HMM predict
17Phosphoserine(CDK)HMM predict
21Phosphoserine(CDK)HMM predict
27Phosphoserine(CDK)HMM predict
35Phosphothreonine(PKA)HMM predict
36N-linkedHMM predict
37Phosphoserine(IKK)HMM predict
37PhosphoserineHMM predict
37Phosphoserine(PKB)HMM predict
84Phosphothreonine(MAPK)HMM predict
84Phosphothreonine(CDK)HMM predict
134O-linkedHMM predict
137O-linkedHMM predict
138Phosphothreonine(PKC)HMM predict
177Phosphoserine(PKG)HMM predict
252Phosphoserine(CK1)HMM predict
326Phosphothreonine(CK2)HMM predict
348Phosphoserine(CK1)HMM predict
389Phosphoserine(PKG)HMM predict
416Phosphothreonine(PKC)HMM predict
448Phosphoserine(CK1)HMM predict
449Phosphoserine(CK1)HMM predict
613O-linkedHMM predict
669Phosphoserine(CK2)HMM predict
684Phosphoserine(CK1)HMM predict
698Phosphothreonine(PKC)HMM predict
752Phosphoserine(CK1)HMM predict
822N-linkedHMM predict
896Phosphoserine(PKG)HMM predict
954Phosphothreonine(PKC)HMM predict
954Phosphothreonine(CK2)HMM predict
987SulfotyrosineHMM predict
997Phosphoserine(IKK)HMM predict
998N-linkedHMM predict
1001N-linkedHMM predict
1019N-linkedHMM predict
1046Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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
5501 mRNA RAB6IP2 chr12 970664 1472958 116 EST chr12 1162265 1162823Sense/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