AutismKB 2.0

Annotation Detail for CACNA1S


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Basic Information Top
Gene Symbol:CACNA1S ( CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1S subunit
Band: 1q32.1
Quick LinksEntrez ID:779; OMIM: 114208; Uniprot ID:CAC1S_HUMAN; ENSEMBL ID: ENSG00000081248; HGNC ID: 1397
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...) (Potential).
257N-linked (GlcNAc...) (Potential).
687Phosphoserine; by PKA (By similarity).
1141N-linked (GlcNAc...) (Potential).
1392Phosphoserine; by PKA (Potential).
Location(AA) Modifications Resource
79N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
687Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
1141N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1392Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(ATM)HMM predict
26Phosphoserine(CDC2)HMM predict
26Phosphoserine(CDK)HMM predict
257N-linkedHMM predict
366Phosphotyrosine(INSR)HMM predict
387Phosphoserine(PKG)HMM predict
393Phosphoserine(CK2)HMM predict
397Phosphoserine(CK1)HMM predict
669Phosphoserine(CK1)HMM predict
687Phosphoserine(PKG)HMM predict
687Phosphoserine(PKA)HMM predict
694Phosphoserine(CK2)HMM predict
700Phosphothreonine(PKC)HMM predict
716Phosphothreonine(PKC)HMM predict
755Phosphoserine(CDC2)HMM predict
755Phosphoserine(CDK)HMM predict
783Phosphoserine(CDC2)HMM predict
797N-linkedHMM predict
803N-linkedHMM predict
882Phosphoserine(MAPK)HMM predict
1026Phosphoserine(CK2)HMM predict
1076Phosphotyrosine(SRC)HMM predict
1076Phosphotyrosine(Syk)HMM predict
1076Phosphotyrosine(INSR)HMM predict
1344Phosphotyrosine(Syk)HMM predict
1344Phosphotyrosine(INSR)HMM predict
1392Phosphoserine(IKK)HMM predict
1464N-linkedHMM predict
1502Phosphoserine(PKA)HMM predict
1543SulfotyrosineHMM predict
1544SulfotyrosineHMM predict
1617Phosphoserine(PKB)HMM predict
1617Phosphoserine(PKG)HMM predict
1617Phosphoserine(IKK)HMM predict
1617Phosphoserine(PKA)HMM predict
1674N-linkedHMM predict
1677N-linkedHMM predict
1757Phosphoserine(PKB)HMM predict
1757PhosphoserineHMM predict
1758Phosphothreonine(MAPK)HMM predict
1775N-linkedHMM predict
1776Phosphothreonine(PKC)HMM predict
1780O-linkedHMM predict
1857Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000069
  • Location:chr1 199275264-199348316
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 199349953 199350168 215 1744
CTCF CD4GSE12889 199355012 199355354 342 6867
CTCF CD4SISSRdata 199349953 199350168 215 1744
CTCF CD4SISSRdata 199355012 199355354 342 6867
CTCF HelaGSE12889 199349964 199350188 224 1760
CTCF HelaGSE12889 199355066 199355365 299 6899
CTCF G2GSE9613 199349954 199351043 1089 2182
CTCF G2GSE9613 199355004 199355284 280 6828
Myc K562GSE19551 199349804 199350202 398 1687
Rb SenescentGSE19898 199349984 199350515 531 1933
TFAP2C MCF7GSE21234 199349640 199350469 829 1738
hScc1 BcellGSE12603 199349881 199351440 1559 2344
hScc1 CdLSGSE12603 199349646 199350251 605 1632
hScc1 CdLSGSE12603 199354862 199355358 496 6794
p130 SenescentGSE19898 199349937 199350247 310 1776
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 199274247 199274503 256 890
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 199336960 199337281 321 0
CTCF CD4GSE12889 199278627 199278973 346 0
CTCF CD4GSE12889 199321785 199321898 113 0
CTCF CD4SISSRdata 199278627 199278973 346 0
CTCF CD4SISSRdata 199321785 199321898 113 0
CTCF G2GSE9613 199278523 199279124 601 0
CTCF G2GSE9613 199286711 199287046 335 0
CTCF G2GSE9613 199287614 199287778 164 0
CTCF G2GSE9613 199289210 199290478 1268 0
CTCF G2GSE9613 199297038 199297185 147 0
CTCF G2GSE9613 199305144 199305490 346 0
CTCF G2GSE9613 199313466 199313773 307 0
CTCF G2GSE9613 199320609 199320960 351 0
CTCF G2GSE9613 199324990 199325127 137 0
CTCF G2GSE9613 199332836 199333094 258 0
CTCF G2GSE9613 199337934 199338231 297 0
ER MCF7GSE19013 199280599 199281389 790 0
Oct4 hESGSE17917 199284437 199284660 223 0
TFAP2C MCF7GSE21234 199321524 199322222 698 0
hScc1 BcellGSE12603 199278221 199279090 869 0
hScc1 BcellGSE12603 199289556 199290291 735 0
hScc1 BcellGSE12603 199332906 199333355 449 0
hScc1 CdLSGSE12603 199278413 199279191 778 0
hScc1 G2GSE9613 199278413 199279090 677 0
p130 SenescentGSE19898 199345895 199346241 346 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
2142 EST chr1 197737070 197743858 3560 mRNA CACNA1S chr1 197740298 197813351 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


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