AutismKB 2.0

Annotation Detail for CACNA1I


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Basic Information Top
Gene Symbol:CACNA1I ( Cav3.3,KIAA1120 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1I subunit
Band: 22q13.1
Quick LinksEntrez ID:8911; OMIM: 608230; Uniprot ID:CAC1I_HUMAN; ENSEMBL ID: ENSG00000100346; HGNC ID: 1396
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
173N-linked (GlcNAc...) (Potential).
244N-linked (GlcNAc...) (Potential).
311N-linked (GlcNAc...) (Potential).
1342N-linked (GlcNAc...) (Potential).
1345N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
173N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
244N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
311N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1342N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1345N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(IKK)HMM predict
6Phosphoserine(ATM)HMM predict
6Phosphoserine(MAPK)HMM predict
9O-linkedHMM predict
10O-linkedHMM predict
11O-linkedHMM predict
11O-linkedHMM predict
30Phosphoserine(IKK)HMM predict
33O-linkedHMM predict
34O-linkedHMM predict
34Phosphoserine(CDC2)HMM predict
67Phosphoserine(CDC2)HMM predict
173N-linkedHMM predict
179Phosphothreonine(PKC)HMM predict
244N-linkedHMM predict
311N-linkedHMM predict
423O-linkedHMM predict
577Phosphoserine(IKK)HMM predict
872N-linkedHMM predict
875SulfotyrosineHMM predict
876Phosphoserine(CK1)HMM predict
876Phosphoserine(CK2)HMM predict
876PhosphoserineHMM predict
881Phosphoserine(CK1)HMM predict
883Phosphoserine(CK2)HMM predict
898Phosphoserine(ATM)HMM predict
909Phosphothreonine(CDC2)HMM predict
968Phosphoserine(CK1)HMM predict
968PhosphoserineHMM predict
968Phosphoserine(CDC2)HMM predict
972Phosphoserine(PKA)HMM predict
973Phosphoserine(PKC)HMM predict
990Phosphoserine(IKK)HMM predict
1008Phosphoserine(CK1)HMM predict
1056Phosphothreonine(PKA)HMM predict
1058Phosphoserine(CAMK2)HMM predict
1058Phosphoserine(PKA)HMM predict
1058Phosphoserine(PKA)HMM predict
1058Phosphoserine(PKA)HMM predict
1235Phosphotyrosine(EGFR)HMM predict
1342N-linkedHMM predict
1345N-linkedHMM predict
1580N-linkedHMM predict
1766O-linkedHMM predict
1768Phosphoserine(CDC2)HMM predict
1768O-linkedHMM predict
1795Phosphoserine(IKK)HMM predict
1864Phosphoserine(CK1)HMM predict
1885O-linkedHMM predict
1887Phosphoserine(PKG)HMM predict
1887Phosphoserine(CAMK2)HMM predict
1915Phosphoserine(CDK)HMM predict
1915Phosphoserine(CDC2)HMM predict
1915Phosphoserine(MAPK)HMM predict
1942Phosphoserine(ATM)HMM predict
1947O-linkedHMM predict
1947Phosphoserine(ATM)HMM predict
1947Phosphoserine(CDK)HMM predict
1947Phosphoserine(CDC2)HMM predict
1950Phosphoserine(MAPK)HMM predict
1950Phosphoserine(CDC2)HMM predict
1955Phosphoserine(IKK)HMM predict
1955Phosphoserine(CDK)HMM predict
1972Phosphoserine(IKK)HMM predict
1972Phosphoserine(ATM)HMM predict
1993Phosphoserine(IKK)HMM predict
1999Phosphoserine(CDC2)HMM predict
2003N-linkedHMM predict
2015O-linkedHMM predict
2016Phosphoserine(IKK)HMM predict
2020PhosphoserineHMM predict
2020Phosphoserine(IKK)HMM predict
2020Phosphoserine(CDC2)HMM predict
2020Phosphoserine(ATM)HMM predict
2020Phosphoserine(CDK)HMM predict
2023Phosphoserine(IKK)HMM predict
2024O-linkedHMM predict
2027Phosphoserine(IKK)HMM predict
2041PhosphoserineHMM predict
2041Phosphoserine(CDC2)HMM predict
2068Phosphoserine(PKG)HMM predict
2068PhosphoserineHMM predict
2068Phosphoserine(PKC)HMM predict
2068Phosphoserine(CAMK2)HMM predict
2088Phosphoserine(CK1)HMM predict
2089O-linkedHMM predict
2092O-linkedHMM predict
2094O-linkedHMM predict
2106Phosphoserine(ATM)HMM predict
2111MethylarginineHMM predict
2124Phosphoserine(IKK)HMM predict
2128Phosphoserine(CK1)HMM predict
2131Phosphoserine(CK1)HMM predict
2148Phosphothreonine(MAPK)HMM predict
2148PhosphothreonineHMM predict
2154Phosphoserine(CK1)HMM predict
2154O-linkedHMM predict
2158Phosphoserine(IKK)HMM predict
2179Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003406
  • Location:chr22 38296703-38415683
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38283363 38283610 247 13217
CTCF CD4GSE12889 38293359 38293609 250 3220
CTCF CD4SISSRdata 38283363 38283610 247 13217
CTCF CD4SISSRdata 38293359 38293609 250 3220
CTCF JurkatGSE12889 38285792 38285926 134 10845
CTCF G2GSE9613 38284894 38285877 983 11318
ER MCF7GSE19013 38285250 38285882 632 11138
NRSF mAbJurkat 38290413 38291071 658 5962
TFAP2C MCF7GSE21234 38284880 38285889 1009 11319
hScc1 BcellGSE12603 38283178 38284404 1226 12913
hScc1 BcellGSE12603 38285163 38285843 680 11201
hScc1 BcellGSE12603 38294816 38295080 264 1756
hScc1 CdLSGSE12603 38283290 38283693 403 13212
p63 keratinocytesGSE17611 38292929 38293959 1030 3260
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 38417130 38417482 352 1623
CTCF G2GSE9613 38425819 38426197 378 10325
CTCF G2GSE9613 38430640 38430818 178 15046
CTCF G2GSE9613 38434446 38434717 271 18898
RARG MCF7GSE15244 38428372 38428944 572 12975
hScc1 BcellGSE12603 38417100 38417996 896 1865
hScc1 BcellGSE12603 38420086 38420420 334 4570
hScc1 BcellGSE12603 38431986 38432456 470 16538
hScc1 BcellGSE12603 38434483 38434717 234 18917
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38348886 38349103 217 0
CTCF CD4SISSRdata 38348886 38349103 217 0
CTCF HelaGSE12889 38348893 38349239 346 0
CTCF G2GSE9613 38343332 38343612 280 0
CTCF G2GSE9613 38348577 38349249 672 0
CTCF G2GSE9613 38375373 38376037 664 0
CTCF G2GSE9613 38380793 38381376 583 0
CTCF G2GSE9613 38411679 38412401 722 0
ER MCF7GSE19013 38376294 38376832 538 0
ER MCF7GSE19013 38379272 38379934 662 0
ER MCF7GSE19013 38389561 38390109 548 0
FOXA1 MCF7GSE15244 38360642 38361345 703 0
Fos K562GSE19551 38300576 38301259 683 0
Fos K562GSE19551 38332541 38333196 655 0
Gata1 K562GSE18868 38351917 38352568 651 0
Gata2 K562GSE18868 38352000 38352580 580 0
Myc K562GSE19551 38352025 38352534 509 0
P300 T30-glioblastomaGSE21026 38300573 38301351 778 0
RARA MCF7GSE15244 38360606 38361457 851 0
RARG MCF7GSE15244 38360314 38361345 1031 0
Rb GrowingGSE19898 38340967 38341077 110 0
TFAP2C MCF7GSE21234 38362017 38362672 655 0
TFAP2C MCF7GSE21234 38379382 38379939 557 0
TFAP2C MCF7GSE21234 38389680 38390591 911 0
TFAP2C MCF7GSE21234 38391004 38391660 656 0
TFAP2C MCF7GSE21234 38392455 38392971 516 0
TFAP2C MCF7GSE21234 38399703 38400843 1140 0
hScc1 BcellGSE12603 38300791 38301101 310 0
hScc1 BcellGSE12603 38304681 38305086 405 0
hScc1 BcellGSE12603 38323824 38324681 857 0
hScc1 BcellGSE12603 38343227 38343914 687 0
hScc1 BcellGSE12603 38344878 38345376 498 0
hScc1 BcellGSE12603 38354912 38356024 1112 0
hScc1 BcellGSE12603 38358005 38358359 354 0
hScc1 BcellGSE12603 38372583 38373121 538 0
hScc1 BcellGSE12603 38375311 38375769 458 0
hScc1 BcellGSE12603 38377605 38377958 353 0
hScc1 BcellGSE12603 38384098 38384301 203 0
hScc1 BcellGSE12603 38387877 38388292 415 0
hScc1 BcellGSE12603 38389577 38391382 1805 0
hScc1 BcellGSE12603 38396739 38397128 389 0
hScc1 BcellGSE12603 38404154 38404410 256 0
hScc1 BcellGSE12603 38406690 38407259 569 0
hScc1 BcellGSE12603 38411610 38412509 899 0
hScc1 BcellGSE12603 38414262 38414753 491 0
hScc1 CdLSGSE12603 38348798 38349249 451 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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