AutismKB 2.0

Annotation Detail for CACNA1A


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Basic Information Top
Gene Symbol:CACNA1A ( APCA,CACNL1A4,CAV2.1,EA2,FHM,HPCA,MHP,MHP1,SCA6 )
Gene Full Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Band: 19p13.13
Quick LinksEntrez ID:773; OMIM: 601011; Uniprot ID:CAC1A_HUMAN; ENSEMBL ID: ENSG00000141837; HGNC ID: 1388
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
283N-linked (GlcNAc...) (Potential).
750Phosphoserine (By similarity).
1822Phosphoserine; by PKA (Potential).
2030Phosphoserine (By similarity).
2076Phosphotyrosine (By similarity).
2269Phosphoserine (By similarity).
2378Phosphoserine (By similarity).
Location(AA) Modifications Resource
283N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
750Phosphoserine (By similarity).Swiss-Prot 53.0
1822Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
2030Phosphoserine (By similarity).Swiss-Prot 53.0
2076Phosphotyrosine (By similarity).Swiss-Prot 53.0
2269Phosphoserine (By similarity).Swiss-Prot 53.0
2378Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
31MethylarginineHMM predict
37MethylarginineHMM predict
75N-linkedHMM predict
127Phosphothreonine(CDC2)HMM predict
127Phosphothreonine(MAPK)HMM predict
193Phosphothreonine(PKC)HMM predict
274O-linkedHMM predict
283N-linkedHMM predict
392Phosphotyrosine(INSR)HMM predict
425Phosphothreonine(PKC)HMM predict
457Phosphoserine(PKG)HMM predict
465N-linkedHMM predict
702N-linkedHMM predict
707N-linkedHMM predict
724Phosphothreonine(CK2)HMM predict
795Phosphotyrosine(SRC)HMM predict
795SulfotyrosineHMM predict
834N-linkedHMM predict
835N-linkedHMM predict
837N-linkedHMM predict
910Phosphoserine(CK1)HMM predict
910Phosphoserine(IKK)HMM predict
943Phosphoserine(PKA)HMM predict
947Phosphoserine(CDC2)HMM predict
947Phosphoserine(IKK)HMM predict
984Phosphoserine(PKA)HMM predict
1041O-linkedHMM predict
1044N-linkedHMM predict
1094Phosphoserine(CDC2)HMM predict
1094Phosphoserine(ATM)HMM predict
1094Phosphoserine(IKK)HMM predict
1100N-linkedHMM predict
1125Phosphothreonine(CDC2)HMM predict
1125Phosphothreonine(CDK)HMM predict
1131N-linkedHMM predict
1134N-linkedHMM predict
1140Phosphothreonine(CDC2)HMM predict
1140Phosphothreonine(MAPK)HMM predict
1140Phosphothreonine(CDK)HMM predict
1149N-linkedHMM predict
1153O-linkedHMM predict
1160Phosphothreonine(PKC)HMM predict
1180N-linkedHMM predict
1356Phosphothreonine(PKC)HMM predict
1443Phosphotyrosine(Jak)HMM predict
1480Phosphoserine(CDC2)HMM predict
1694Phosphotyrosine(Jak)HMM predict
1726Phosphoserine(CK1)HMM predict
1726Phosphoserine(CK2)HMM predict
1818Phosphothreonine(PKC)HMM predict
1822Phosphoserine(IKK)HMM predict
1849Phosphotyrosine(Syk)HMM predict
1894N-linkedHMM predict
1949Phosphothreonine(PKA)HMM predict
1984Phosphothreonine(MAPK)HMM predict
1997O-linkedHMM predict
1997O-linkedHMM predict
2030Phosphoserine(IKK)HMM predict
2059Phosphoserine(ATM)HMM predict
2063Phosphoserine(ATM)HMM predict
2076Phosphotyrosine(INSR)HMM predict
2077Phosphoserine(CK2)HMM predict
2082Phosphotyrosine(INSR)HMM predict
2082Phosphotyrosine(Jak)HMM predict
2082Phosphotyrosine(Jak)HMM predict
2082Phosphotyrosine(Syk)HMM predict
2093Phosphoserine(CAMK2)HMM predict
2112N-linkedHMM predict
2125O-linkedHMM predict
2125Phosphoserine(PKG)HMM predict
2127Phosphoserine(PKA)HMM predict
2127Phosphoserine(CAMK2)HMM predict
2127Phosphoserine(IKK)HMM predict
2140Phosphoserine(CK1)HMM predict
2164Phosphoserine(CAMK2)HMM predict
2167Phosphoserine(CK1)HMM predict
2240MethylarginineHMM predict
2249Phosphoserine(CDC2)HMM predict
2251Phosphoserine(PKC)HMM predict
2251Phosphoserine(CK1)HMM predict
2263Phosphoserine(PKA)HMM predict
2267O-linkedHMM predict
2267Phosphoserine(CK2)HMM predict
2269O-linkedHMM predict
2269Phosphoserine(CDC2)HMM predict
2269Phosphoserine(ATM)HMM predict
2269Phosphoserine(IKK)HMM predict
2269PhosphoserineHMM predict
2273O-linkedHMM predict
2275O-linkedHMM predict
2275O-linkedHMM predict
2277O-linkedHMM predict
2279Phosphothreonine(CDC2)HMM predict
2279Phosphothreonine(MAPK)HMM predict
2279Phosphothreonine(CDK)HMM predict
2290Phosphothreonine(MAPK)HMM predict
2293O-linkedHMM predict
2293Phosphothreonine(CDC2)HMM predict
2293Phosphothreonine(MAPK)HMM predict
2310O-linkedHMM predict
2334Phosphothreonine(PKC)HMM predict
2355Phosphothreonine(PKC)HMM predict
2360Phosphoserine(ATM)HMM predict
2378Phosphoserine(IKK)HMM predict
2378Phosphoserine(PKB)HMM predict
2397O-linkedHMM predict
2414Phosphotyrosine(INSR)HMM predict
2443O-linkedHMM predict
2444O-linkedHMM predict
2450O-linkedHMM predict
2450Phosphoserine(CDC2)HMM predict
2450Phosphoserine(CDK)HMM predict
2453Phosphothreonine(MAPK)HMM predict
2463Phosphoserine(CDC2)HMM predict
2475Phosphotyrosine(Syk)HMM predict
2498Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_023035
  • Location:chr19 13179114-13478316
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 13478919 13479844 925 1065
Oct1 H2O2-HelaGSE14283 13488770 13488813 43 10475
Oct1 HelaGSE14283 13488770 13488812 42 10475
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 13166451 13166619 168 12580
KLF4 hESGSE17917 13163043 13163200 157 15993
hScc1 BcellGSE12603 13167645 13167916 271 11334
hScc1 CdLSGSE12603 13167645 13167941 296 11322
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 13184742 13184929 187 0
CTCF CD4GSE12889 13206475 13206657 182 0
CTCF CD4GSE12889 13234296 13234485 189 0
CTCF CD4GSE12889 13402858 13403077 219 0
CTCF CD4SISSRdata 13184742 13184929 187 0
CTCF CD4SISSRdata 13206475 13206657 182 0
CTCF CD4SISSRdata 13234296 13234485 189 0
CTCF CD4SISSRdata 13402858 13403077 219 0
CTCF HelaGSE12889 13206443 13206782 339 0
CTCF HelaGSE12889 13219719 13219917 198 0
CTCF HelaGSE12889 13402870 13403104 234 0
CTCF JurkatGSE12889 13184711 13184984 273 0
CTCF JurkatGSE12889 13402915 13403108 193 0
CTCF G2GSE9613 13182821 13183375 554 0
CTCF G2GSE9613 13184381 13185010 629 0
CTCF G2GSE9613 13206372 13206936 564 0
CTCF G2GSE9613 13213221 13213805 584 0
CTCF G2GSE9613 13234021 13234230 209 0
CTCF G2GSE9613 13248887 13249581 694 0
CTCF G2GSE9613 13249924 13250233 309 0
CTCF G2GSE9613 13400117 13400787 670 0
CTCF G2GSE9613 13402687 13403331 644 0
CTCF G2GSE9613 13478003 13478478 475 0
ER E2-MCF7GSE14664 13241022 13241063 41 0
ER E2-MCF7GSE14664 13253912 13253950 38 0
ETS1 JurkatGSE17954 13368063 13369110 1047 0
Fos K562GSE19551 13232798 13233366 568 0
Fos K562GSE19551 13454963 13455555 592 0
GABP k562GSE8489 13368789 13369458 669 0
Gata2 K562GSE18868 13353616 13354277 661 0
H3K27me3 colorectalcancer 13475836 13476106 270 0
Myc K562GSE19551 13338368 13338631 263 0
Myc K562GSE19551 13413670 13413981 311 0
NRSF JurkatGSE13047 13215692 13216322 630 0
NRSF JurkatGSE13047 13412865 13413269 404 0
NRSF JurkatGSE13047 13413387 13414697 1310 0
NRSF JurkatGSE13047 13433722 13434226 504 0
NRSF JurkatGSE13047 13434824 13435807 983 0
NRSF mAbJurkat 13214409 13214931 522 0
NRSF mAbJurkat 13405335 13405684 349 0
NRSF mAbJurkat 13411524 13411739 215 0
NRSF mAbJurkat 13412079 13412325 246 0
NRSF mAbJurkat 13413515 13414642 1127 0
NRSF mAbJurkat 13415584 13416525 941 0
NRSF mAbJurkat 13416976 13417775 799 0
NRSF mAbJurkat 13418702 13419258 556 0
NRSF mAbJurkat 13422809 13423096 287 0
NRSF mAbJurkat 13430969 13432843 1874 0
NRSF mAbJurkat 13433198 13434315 1117 0
NRSF mAbJurkat 13434989 13435663 674 0
NRSF mAbJurkat 13440631 13441240 609 0
NRSF mAbJurkat 13441583 13442307 724 0
NRSF mAbJurkat 13464430 13465482 1052 0
NRSF mAbJurkat 13466120 13466390 270 0
NRSF mAbJurkat 13466767 13467032 265 0
NRSF mAbJurkat 13467914 13468496 582 0
NRSF mAbJurkat 13468902 13469188 286 0
NRSF-mono JurkatQuESTdata 13215691 13216321 630 0
NRSF-mono JurkatQuESTdata 13387623 13387817 194 0
NRSF-mono JurkatQuESTdata 13410267 13410449 182 0
NRSF-mono JurkatQuESTdata 13413505 13414551 1046 0
NRSF-mono JurkatQuESTdata 13415556 13415872 316 0
NRSF-mono JurkatQuESTdata 13433937 13434225 288 0
NRSF-mono JurkatQuESTdata 13434829 13435751 922 0
NRSF-mono JurkatQuESTdata 13465360 13465745 385 0
NRSF-poly JurkatQuESTdata 13215753 13216278 525 0
NRSF-poly JurkatQuESTdata 13412890 13413276 386 0
NRSF-poly JurkatQuESTdata 13413387 13414732 1345 0
NRSF-poly JurkatQuESTdata 13434900 13435716 816 0
Nanog hESGSE18292 13249053 13249290 237 0
Nanog hESGSE18292 13431908 13432302 394 0
Oct1 H2O2-HelaGSE14283 13273380 13273410 30 0
Oct1 H2O2-HelaGSE14283 13326961 13326999 38 0
Oct1 H2O2-HelaGSE14283 13357748 13357785 37 0
Oct1 HelaGSE14283 13326962 13326999 37 0
Oct1 HelaGSE14283 13357748 13357783 35 0
Oct4 hESGSE17917 13197988 13198137 149 0
P300 T30-glioblastomaGSE21026 13232664 13233358 694 0
Rb GrowingGSE19898 13219676 13219822 146 0
Rb shRbQuiescentGSE19898 13254206 13254372 166 0
Sox2 hESGSE18292 13248907 13249300 393 0
Stat6 IL-4-hr4GSE17850 13471643 13472152 509 0
TFAP2C MCF7GSE21234 13203019 13203404 385 0
TFAP2C MCF7GSE21234 13368233 13368817 584 0
hScc1 BcellGSE12603 13182893 13183851 958 0
hScc1 BcellGSE12603 13184560 13185461 901 0
hScc1 BcellGSE12603 13189094 13189259 165 0
hScc1 BcellGSE12603 13206372 13206521 149 0
hScc1 BcellGSE12603 13216732 13217107 375 0
hScc1 BcellGSE12603 13248850 13249581 731 0
hScc1 BcellGSE12603 13249924 13250119 195 0
hScc1 BcellGSE12603 13402792 13403218 426 0
hScc1 BcellGSE12603 13477779 13478379 600 0
hScc1 CdLSGSE12603 13248850 13249581 731 0
hScc1 CdLSGSE12603 13249924 13250270 346 0
hScc1 CdLSGSE12603 13402649 13403331 682 0
hScc1 G2GSE9613 13248850 13249581 731 0
hScc1 G2GSE9613 13249924 13250195 271 0
hScc1 G2GSE9613 13402649 13403218 569 0
p130 QuiescentGSE19898 13180014 13180208 194 0
p130 QuiescentGSE19898 13463915 13464086 171 0
p130 SenescentGSE19898 13179930 13180265 335 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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