AutismKB 2.0

Annotation Detail for CACNA1F


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Basic Information Top
Gene Symbol:CACNA1F ( AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1F subunit
Band: Xp11.23
Quick LinksEntrez ID:778; OMIM: 300110; Uniprot ID:CAC1F_HUMAN; ENSEMBL ID: ENSG00000102001; HGNC ID: 1393
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
295N-linked (GlcNAc...) (Potential).
1452Phosphoserine; by PKA (Potential).
Location(AA) Modifications Resource
295N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1441Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
11O-linkedHMM predict
11Phosphothreonine(MAPK)HMM predict
11Phosphothreonine(CDC2)HMM predict
15O-linkedHMM predict
43Phosphoserine(IKK)HMM predict
47Phosphothreonine(CDC2)HMM predict
47Phosphothreonine(MAPK)HMM predict
47Phosphothreonine(CDK)HMM predict
84Phosphoserine(PKA)HMM predict
120Phosphoserine(IKK)HMM predict
281Phosphoserine(IKK)HMM predict
295N-linkedHMM predict
376Phosphoserine(CK1)HMM predict
450Phosphothreonine(PKA)HMM predict
452Phosphoserine(IKK)HMM predict
452O-linkedHMM predict
454Phosphoserine(CK2)HMM predict
455O-linkedHMM predict
458Phosphoserine(IKK)HMM predict
458O-linkedHMM predict
458O-linkedHMM predict
458Phosphoserine(PKA)HMM predict
462O-linkedHMM predict
466Phosphoserine(IKK)HMM predict
577Phosphotyrosine(EGFR)HMM predict
1137Phosphotyrosine(SRC)HMM predict
1137Phosphotyrosine(EGFR)HMM predict
1137Phosphotyrosine(Syk)HMM predict
1441Phosphoserine(IKK)HMM predict
1513N-linkedHMM predict
1601O-linkedHMM predict
1656Phosphoserine(ATM)HMM predict
1691Phosphothreonine(MAPK)HMM predict
1694O-linkedHMM predict
1695Phosphoserine(ATM)HMM predict
1695O-linkedHMM predict
1698O-linkedHMM predict
1706Phosphothreonine(PKC)HMM predict
1711Phosphoserine(PKA)HMM predict
1724Phosphoserine(ATM)HMM predict
1754Phosphothreonine(MAPK)HMM predict
1791Phosphoserine(PKA)HMM predict
1818Phosphoserine(PKG)HMM predict
1826Phosphoserine(IKK)HMM predict
1941Phosphotyrosine(INSR)HMM predict
1942Phosphoserine(CK2)HMM predict
1942Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005183
  • Location:chrX 48948467-48976776
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48948360 48949298 938 0
CTCF G2GSE9613 48949826 48950256 430 0
CTCF G2GSE9613 48959819 48959960 141 0
CTCF G2GSE9613 48961388 48961570 182 0
CTCF G2GSE9613 48962650 48963102 452 0
CTCF G2GSE9613 48965821 48966423 602 0
CTCF G2GSE9613 48973839 48975211 1372 0
CTCF G2GSE9613 48976234 48976566 332 0
ER E2-MCF7GSE14664 48951491 48951538 47 0
hScc1 G2GSE9613 48948987 48949193 206 0
hScc1 G2GSE9613 48949826 48950256 430 0
hScc1 G2GSE9613 48952535 48953169 634 0
hScc1 G2GSE9613 48958617 48958908 291 0
hScc1 G2GSE9613 48962650 48963102 452 0
hScc1 G2GSE9613 48973839 48974099 260 0
hScc1 G2GSE9613 48975026 48975367 341 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