AutismKB 2.0

Annotation Detail for CACNA1C


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Basic Information Top
Gene Symbol:CACNA1C ( CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,MGC120730,TS )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Band: 12p13.33
Quick LinksEntrez ID:775; OMIM: 114205; Uniprot ID:CAC1C_HUMAN; ENSEMBL ID: ENSG00000151067; HGNC ID: 1390
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
153N-linked (GlcNAc...) (Potential).
328N-linked (GlcNAc...) (Potential).
815Phosphoserine (By similarity).
1436N-linked (GlcNAc...) (Potential).
1487N-linked (GlcNAc...) (Potential).
1535Phosphoserine; by PKA (Potential).
1973Phosphoserine; by PKA (Potential).
1981Phosphoserine; by PKA (Potential).
Location(AA) Modifications Resource
153N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
328N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
815Phosphoserine (By similarity).Swiss-Prot 53.0
1436N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1487N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1535Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
1973Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
1981Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphotyrosine(Jak)HMM predict
20Phosphotyrosine(INSR)HMM predict
20Phosphotyrosine(Abl)HMM predict
22Phosphoserine(CDC2)HMM predict
22O-linkedHMM predict
22Phosphoserine(CDK)HMM predict
70N-linkedHMM predict
72O-linkedHMM predict
74O-linkedHMM predict
74O-linkedHMM predict
75O-linkedHMM predict
79Phosphothreonine(PKC)HMM predict
94Phosphoserine(IKK)HMM predict
144Phosphotyrosine(EGFR)HMM predict
152Phosphoserine(IKK)HMM predict
153N-linkedHMM predict
156N-linkedHMM predict
158N-linkedHMM predict
314Phosphoserine(IKK)HMM predict
328N-linkedHMM predict
409Phosphoserine(CK1)HMM predict
465Phosphoserine(PKB)HMM predict
465Phosphoserine(IKK)HMM predict
546Phosphotyrosine(Abl)HMM predict
684Phosphothreonine(PKC)HMM predict
761Phosphoserine(CK1)HMM predict
783Phosphoserine(CDC2)HMM predict
815Phosphoserine(ATM)HMM predict
815Phosphoserine(IKK)HMM predict
837Phosphotyrosine(Syk)HMM predict
843Phosphothreonine(CK2)HMM predict
898N-linkedHMM predict
904N-linkedHMM predict
1076Phosphotyrosine(INSR)HMM predict
1079Phosphoserine(ATM)HMM predict
1085Phosphothreonine(CK2)HMM predict
1110Phosphoserine(IKK)HMM predict
1197Phosphotyrosine(Syk)HMM predict
1197Phosphotyrosine(EGFR)HMM predict
1237N-linkedHMM predict
1300Phosphoserine(ATM)HMM predict
1326Phosphotyrosine(Jak)HMM predict
1436N-linkedHMM predict
1442N-linkedHMM predict
1486Phosphoserine(CK2)HMM predict
1486Phosphoserine(CK1)HMM predict
1487N-linkedHMM predict
1488Phosphoserine(CK1)HMM predict
1493PhosphothreonineHMM predict
1535Phosphoserine(IKK)HMM predict
1607N-linkedHMM predict
1645Phosphoserine(PKA)HMM predict
1739Phosphoserine(CK2)HMM predict
1784Phosphoserine(ATM)HMM predict
1790Phosphoserine(ATM)HMM predict
1804O-linkedHMM predict
1807Phosphoserine(CK1)HMM predict
1807Phosphoserine(IKK)HMM predict
1807O-linkedHMM predict
1819N-linkedHMM predict
1820N-linkedHMM predict
1837O-linkedHMM predict
1847Phosphoserine(CDC2)HMM predict
1879Phosphoserine(PKA)HMM predict
1879Phosphoserine(PKG)HMM predict
1895N-linkedHMM predict
1901Phosphoserine(IKK)HMM predict
1901Phosphoserine(CK1)HMM predict
1904Phosphoserine(PKA)HMM predict
1904Phosphoserine(ATM)HMM predict
1915Phosphoserine(ATM)HMM predict
1915Phosphoserine(CK1)HMM predict
1915Phosphoserine(CK2)HMM predict
1920Phosphotyrosine(Syk)HMM predict
1953Phosphothreonine(PKC)HMM predict
1965Phosphoserine(CDC2)HMM predict
1981Phosphoserine(PKB)HMM predict
1998Phosphoserine(ATM)HMM predict
2027Phosphoserine(MAPK)HMM predict
2027Phosphoserine(ATM)HMM predict
2027Phosphoserine(IKK)HMM predict
2037Phosphothreonine(MAPK)HMM predict
2037PhosphothreonineHMM predict
2037O-linkedHMM predict
2041Phosphothreonine(MAPK)HMM predict
2044O-linkedHMM predict
2045MethylarginineHMM predict
2067N-linkedHMM predict
2077Phosphoserine(IKK)HMM predict
2082Phosphothreonine(CDC2)HMM predict
2203ArginineHMM predict
2217Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000719
  • Location:chr12 2032724-2672367
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2014397 2014781 384 18136
CTCF CD4SISSRdata 2014397 2014781 384 18136
H3K27me3 colorectalcancer 2029915 2031430 1515 2052
Myc K562GSE19551 2014272 2014737 465 18220
Rb shRbQuiescentGSE19898 2019168 2019365 197 13458
hScc1 BcellGSE12603 2014190 2014697 507 18281
hScc1 CdLSGSE12603 2014190 2014803 613 18228
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 2676394 2677162 768 4411
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
AR prostate-cancerGSE14092 2235056 2235634 578 0
CBP T30-glioblastomaGSE21026 2043289 2044128 839 0
CBP T30-glioblastomaGSE21026 2280995 2282236 1241 0
CBP T30-glioblastomaGSE21026 2314935 2316700 1765 0
CBP T30-glioblastomaGSE21026 2592719 2593899 1180 0
CBP T30-glioblastomaGSE21026 2619902 2620832 930 0
CTCF CD4GSE12889 2036705 2036873 168 0
CTCF CD4GSE12889 2270756 2270949 193 0
CTCF CD4GSE12889 2374923 2375057 134 0
CTCF CD4GSE12889 2562529 2562709 180 0
CTCF CD4SISSRdata 2036705 2036873 168 0
CTCF CD4SISSRdata 2270756 2270949 193 0
CTCF CD4SISSRdata 2374923 2375057 134 0
CTCF CD4SISSRdata 2562529 2562709 180 0
CTCF HelaGSE12889 2374906 2375174 268 0
CTCF JurkatGSE12889 2374839 2375067 228 0
CTCF JurkatGSE12889 2562476 2562704 228 0
ERG prostate-cancerGSE14092 2235113 2235652 539 0
FOXA1 MCF7GSE15244 2125491 2126365 874 0
FOXA1 MCF7GSE15244 2133014 2134199 1185 0
FOXA1 MCF7GSE15244 2139412 2139954 542 0
FOXA1 MCF7GSE15244 2140886 2141418 532 0
FOXA1 MCF7GSE15244 2265735 2266023 288 0
FOXA1 MCF7GSE15244 2603879 2604491 612 0
FOXA1 MCF7GSE15244 2661177 2661586 409 0
Fos K562GSE19551 2315765 2316061 296 0
Fos K562GSE19551 2620089 2620446 357 0
FoxA1 MCF7MACSdata 2139647 2139810 163 0
FoxA1 MCF7MACSdata 2565939 2566184 245 0
GATA3 MCF7GSE15244 2120571 2121273 702 0
GATA3 MCF7GSE15244 2499447 2500325 878 0
H3K27me3 colorectalcancer 2034256 2035142 886 0
KLF4 hESGSE17917 2633361 2633688 327 0
Myc K562GSE19551 2235266 2235455 189 0
NFkBII GM12878GSE19485 2227681 2229141 1460 0
NRSF pAbJurkat 2164551 2164793 242 0
NRSF pAbJurkat 2170559 2170914 355 0
NRSF pAbJurkat 2229535 2230103 568 0
NRSF pAbJurkat 2234994 2235540 546 0
NRSF pAbJurkat 2251417 2251580 163 0
NRSF pAbJurkat 2289169 2289499 330 0
NRSF pAbJurkat 2317319 2317669 350 0
NRSF pAbJurkat 2416627 2416834 207 0
NRSF pAbJurkat 2417871 2418189 318 0
NRSF pAbJurkat 2474943 2475350 407 0
NRSF pAbJurkat 2500732 2501592 860 0
NRSF pAbJurkat 2512804 2513454 650 0
NRSF pAbJurkat 2535800 2536288 488 0
NRSF pAbJurkat 2560398 2560838 440 0
NRSF pAbJurkat 2629962 2630371 409 0
NRSF pAbJurkat 2656809 2657448 639 0
NRSF pAbJurkat 2658152 2659273 1121 0
NRSF pAbJurkat 2663117 2663635 518 0
NRSF pAbJurkat 2670735 2671135 400 0
Nanog ESGSE20650 2114968 2115366 398 0
Nanog ESGSE20650 2223450 2224025 575 0
Nanog hESGSE18292 2177600 2177993 393 0
Nanog hESGSE18292 2493728 2493940 212 0
Oct4 ESGSE20650 2235194 2235540 346 0
Oct4 hESGSE17917 2339568 2339719 151 0
Oct4 hESGSE17917 2472577 2472931 354 0
P300 T0-glioblastomaGSE21026 2466635 2467360 725 0
P300 T0-glioblastomaGSE21026 2603933 2604751 818 0
P300 T30-glioblastomaGSE21026 2043258 2044155 897 0
P300 T30-glioblastomaGSE21026 2108173 2109029 856 0
P300 T30-glioblastomaGSE21026 2159227 2160567 1340 0
P300 T30-glioblastomaGSE21026 2243525 2245319 1794 0
P300 T30-glioblastomaGSE21026 2280708 2282503 1795 0
P300 T30-glioblastomaGSE21026 2289902 2291568 1666 0
P300 T30-glioblastomaGSE21026 2314575 2317021 2446 0
P300 T30-glioblastomaGSE21026 2337211 2337981 770 0
P300 T30-glioblastomaGSE21026 2466518 2467117 599 0
P300 T30-glioblastomaGSE21026 2592728 2593858 1130 0
P300 T30-glioblastomaGSE21026 2603751 2604661 910 0
P300 T30-glioblastomaGSE21026 2619792 2620948 1156 0
RARA MCF7GSE15244 2499409 2500361 952 0
RARA MCF7GSE15244 2518614 2519207 593 0
RARA MCF7GSE15244 2530212 2530860 648 0
RARG MCF7GSE15244 2133332 2134234 902 0
RARG MCF7GSE15244 2190586 2190873 287 0
RARG MCF7GSE15244 2235170 2235540 370 0
RARG MCF7GSE15244 2268999 2269549 550 0
RARG MCF7GSE15244 2332091 2332706 615 0
RARG MCF7GSE15244 2603763 2604531 768 0
RARG MCF7GSE15244 2661289 2661586 297 0
Rb GrowingGSE19898 2099442 2099604 162 0
Rb GrowingGSE19898 2235910 2236145 235 0
Rb QuiescentGSE19898 2223454 2223688 234 0
Rb shRbQuiescentGSE19898 2223297 2223520 223 0
Rb shRbSenescenceGSE19898 2336526 2336864 338 0
Sox2 hESGSE18292 2285928 2286334 406 0
TAF HelaGSE8489 2235170 2236022 852 0
TAF HelaGSE8489 2383235 2383638 403 0
TAF HelaGSE8489 2495800 2496528 728 0
TAF HelaGSE8489 2613254 2614042 788 0
TFAP2C MCF7GSE21234 2043432 2044168 736 0
TFAP2C MCF7GSE21234 2108554 2108911 357 0
TFAP2C MCF7GSE21234 2283704 2284172 468 0
TFAP2C MCF7GSE21234 2529737 2530415 678 0
TFAP2C MCF7GSE21234 2603902 2604648 746 0
TFAP2C MCF7GSE21234 2604702 2605108 406 0
TFAP2C MCF7GSE21234 2607260 2607652 392 0
TFAP2C MCF7GSE21234 2616869 2617252 383 0
TFAP2C MCF7GSE21234 2619783 2620606 823 0
VDR GM10855-stimGSE22484 2315120 2316784 1664 0
VDR GM10855-stimGSE22484 2334673 2337040 2367 0
VDR GM10861-stimGSE22484 2314112 2316760 2648 0
VDR GM10861-stimGSE22484 2334591 2338674 4083 0
hScc1 BcellGSE12603 2033219 2033899 680 0
hScc1 BcellGSE12603 2036673 2037315 642 0
hScc1 BcellGSE12603 2070491 2070709 218 0
hScc1 BcellGSE12603 2221345 2221702 357 0
hScc1 BcellGSE12603 2270671 2271469 798 0
hScc1 BcellGSE12603 2317319 2317553 234 0
hScc1 BcellGSE12603 2374961 2375565 604 0
hScc1 BcellGSE12603 2435040 2435216 176 0
hScc1 BcellGSE12603 2483847 2484132 285 0
hScc1 BcellGSE12603 2562299 2562986 687 0
hScc1 BcellGSE12603 2619914 2620370 456 0
hScc1 BcellGSE12603 2658601 2659273 672 0
hScc1 BcellGSE12603 2667924 2668276 352 0
hScc1 CdLSGSE12603 2036493 2037338 845 0
hScc1 CdLSGSE12603 2263741 2264912 1171 0
hScc1 CdLSGSE12603 2315425 2316091 666 0
hScc1 CdLSGSE12603 2338457 2338813 356 0
hScc1 CdLSGSE12603 2358114 2358673 559 0
hScc1 CdLSGSE12603 2361945 2362273 328 0
hScc1 CdLSGSE12603 2374961 2375180 219 0
hScc1 CdLSGSE12603 2562116 2562986 870 0
hScc1 G2GSE9613 2036565 2037315 750 0
hScc1 G2GSE9613 2603879 2604256 377 0
hScc1 G2GSE9613 2661938 2662494 556 0
p130 QuiescentGSE19898 2263226 2263673 447 0
p130 QuiescentGSE19898 2297720 2297862 142 0
p130 QuiescentGSE19898 2620227 2620643 416 0
p130 SenescentGSE19898 2223527 2223797 270 0
p130 SenescentGSE19898 2263189 2263705 516 0
p130 SenescentGSE19898 2594952 2595301 349 0
p130 SenescentGSE19898 2620256 2620870 614 0
p130 shRbQuiescentGSE19898 2620063 2620752 689 0
p130 shRbSenescentGSE19898 2619746 2621034 1288 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19136465
hsa-miR-1 hsa-mir-1-1 20 19136465
hsa-miR-101 hsa-mir-101-1 1 21098446
hsa-miR-101 hsa-mir-101-2 9 21098446
hsa-miR-133a hsa-mir-133a-1 18 21109942
hsa-miR-133a hsa-mir-133a-2 20 21109942
hsa-miR-133a hsa-mir-133a-1 18 19136465
hsa-miR-133a hsa-mir-133a-2 20 19136465
hsa-miR-133b hsa-mir-133b 6 19136465
hsa-miR-155 hsa-mir-155 21 19136465
hsa-miR-155* hsa-mir-155 21 19136465
hsa-miR-17 hsa-mir-17 13 19136465
hsa-miR-17* hsa-mir-17 13 19136465
hsa-miR-21 hsa-mir-21 17 19136465
hsa-miR-21* hsa-mir-21 17 19136465
hsa-miR-223 hsa-mir-223 X 21098446
hsa-miR-223* hsa-mir-223 X 21098446
hsa-miR-328 hsa-mir-328 16 21098446
hsa-miR-499-3p hsa-mir-499 20 21098446
hsa-miR-499-5p hsa-mir-499 20 21098446
hsa-miR-664 hsa-mir-664 0 21098446
hsa-miR-664* hsa-mir-664 0 21098446
No data
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
5517 mRNA CACNA1C chr12 2631066 2665257 263 mRNA chr12 2655427 2670545Sense/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


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