AutismKB 2.0

Annotation Detail for CACNA1D


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Basic Information Top
Gene Symbol:CACNA1D ( CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1D subunit
Band: 3p21.1
Quick LinksEntrez ID:776; OMIM: 114206; Uniprot ID:CAC1D_HUMAN; ENSEMBL ID: ENSG00000157388; HGNC ID: 1391
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
155N-linked (GlcNAc...) (Potential).
225N-linked (GlcNAc...) (Potential).
329N-linked (GlcNAc...) (Potential).
1475Phosphoserine; by PKA (Potential).
1905Phosphoserine.
Location(AA) Modifications Resource
155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
225N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
329N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1475Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
1905Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
40O-linkedHMM predict
41Phosphoserine(IKK)HMM predict
41Phosphoserine(ATM)HMM predict
44N-linkedHMM predict
45Phosphoserine(IKK)HMM predict
70O-linkedHMM predict
70Phosphoserine(IKK)HMM predict
70O-linkedHMM predict
71O-linkedHMM predict
72O-linkedHMM predict
96N-linkedHMM predict
99N-linkedHMM predict
146Phosphotyrosine(EGFR)HMM predict
154Phosphoserine(IKK)HMM predict
155N-linkedHMM predict
156Phosphoserine(CK1)HMM predict
158N-linkedHMM predict
160N-linkedHMM predict
225N-linkedHMM predict
228Phosphoserine(ATM)HMM predict
329N-linkedHMM predict
410Phosphoserine(CK1)HMM predict
463N-linkedHMM predict
464Phosphothreonine(PKC)HMM predict
465Phosphoserine(IKK)HMM predict
465Phosphoserine(PKB)HMM predict
465Phosphoserine(PKA)HMM predict
469O-linkedHMM predict
478N-linkedHMM predict
545Phosphotyrosine(INSR)HMM predict
545Phosphotyrosine(Syk)HMM predict
545Phosphotyrosine(Abl)HMM predict
576Phosphoserine(PKA)HMM predict
683Phosphothreonine(PKC)HMM predict
760Phosphoserine(CK1)HMM predict
782Phosphoserine(PKG)HMM predict
808SulfotyrosineHMM predict
849Phosphoserine(PKG)HMM predict
913Phosphoserine(IKK)HMM predict
1163Phosphotyrosine(Syk)HMM predict
1163Phosphotyrosine(INSR)HMM predict
1203N-linkedHMM predict
1301O-linkedHMM predict
1303O-linkedHMM predict
1303Phosphothreonine(MAPK)HMM predict
1415S-palmitoylHMM predict
1427Phosphotyrosine(Syk)HMM predict
1433Phosphotyrosine(INSR)HMM predict
1475Phosphoserine(IKK)HMM predict
1547N-linkedHMM predict
1635N-linkedHMM predict
1659Phosphoserine(PKA)HMM predict
1670Phosphothreonine(PKC)HMM predict
1705N-linkedHMM predict
1799Phosphoserine(CDC2)HMM predict
1800Phosphoserine(PKC)HMM predict
1800Phosphoserine(CK1)HMM predict
1815Phosphoserine(CK2)HMM predict
1815Phosphoserine(IKK)HMM predict
1845Phosphotyrosine(EGFR)HMM predict
1852Phosphotyrosine(Syk)HMM predict
1857Phosphoserine(CK1)HMM predict
1857Phosphoserine(ATM)HMM predict
1905Phosphoserine(CDK)HMM predict
1905PhosphoserineHMM predict
1905Phosphoserine(CDC2)HMM predict
1914Phosphothreonine(CDC2)HMM predict
1922Phosphoserine(PKB)HMM predict
1932Phosphoserine(PKG)HMM predict
1932Phosphoserine(PKA)HMM predict
1933PhosphoserineHMM predict
1933Phosphoserine(PKG)HMM predict
1933Phosphoserine(PKA)HMM predict
1933Phosphoserine(IKK)HMM predict
1939O-linkedHMM predict
1940O-linkedHMM predict
1940Phosphoserine(CDK)HMM predict
1940Phosphoserine(CDC2)HMM predict
1940PhosphoserineHMM predict
1973Phosphoserine(IKK)HMM predict
1980Phosphoserine(IKK)HMM predict
1983O-linkedHMM predict
1983O-linkedHMM predict
1987Phosphothreonine(MAPK)HMM predict
2013N-linkedHMM predict
2042Phosphothreonine(PKC)HMM predict
2137SulfotyrosineHMM predict
2138Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000720
  • Location:chr3 53504115-53820999
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 53496733 53496938 205 7280
CTCF G2GSE9613 53503106 53503519 413 803
FOXA1 MCF7GSE15244 53494975 53495438 463 8909
TFAP2C MCF7GSE21234 53487213 53487767 554 16626
USF1 HepG2E 53487203 53487528 325 16750
hScc1 CdLSGSE12603 53503246 53503519 273 733
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 53688207 53688886 679 0
CTCF CD4GSE12889 53719343 53719524 181 0
CTCF CD4SISSRdata 53719343 53719524 181 0
CTCF HelaGSE12889 53678065 53678259 194 0
CTCF HelaGSE12889 53686589 53686907 318 0
CTCF JurkatGSE12889 53677953 53678262 309 0
CTCF G2GSE9613 53504207 53504476 269 0
CTCF G2GSE9613 53523338 53523525 187 0
CTCF G2GSE9613 53524665 53524995 330 0
CTCF G2GSE9613 53559215 53559358 143 0
CTCF G2GSE9613 53613458 53613590 132 0
CTCF G2GSE9613 53627241 53627580 339 0
CTCF G2GSE9613 53698287 53698599 312 0
CTCF G2GSE9613 53703123 53703411 288 0
CTCF G2GSE9613 53704076 53704441 365 0
CTCF G2GSE9613 53705865 53706033 168 0
CTCF G2GSE9613 53712868 53713407 539 0
CTCF G2GSE9613 53718496 53719949 1453 0
CTCF G2GSE9613 53727222 53727590 368 0
CTCF G2GSE9613 53733603 53733748 145 0
CTCF G2GSE9613 53744015 53744381 366 0
CTCF G2GSE9613 53759675 53760143 468 0
CTCF G2GSE9613 53772200 53772823 623 0
CTCF G2GSE9613 53773447 53773806 359 0
CTCF G2GSE9613 53779755 53780033 278 0
CTCF G2GSE9613 53789704 53789839 135 0
CTCF G2GSE9613 53793765 53793904 139 0
CTCF G2GSE9613 53794913 53795082 169 0
CTCF G2GSE9613 53796337 53796573 236 0
CTCF G2GSE9613 53800616 53800801 185 0
CTCF G2GSE9613 53812322 53813275 953 0
CTCF G2GSE9613 53815838 53816497 659 0
CTCF G2GSE9613 53817525 53817907 382 0
CTCF G2GSE9613 53819040 53819524 484 0
ER Fulvestrant-MCF7GSE14664 53780599 53780652 53 0
ER MCF7GSE19013 53527690 53528843 1153 0
ER MCF7GSE19013 53560075 53560775 700 0
ER MCF7GSE19013 53673595 53674410 815 0
ER MCF7GSE19013 53716913 53717410 497 0
FOXA1 MCF7GSE15244 53527371 53527689 318 0
FOXA1 MCF7GSE15244 53528012 53528470 458 0
FOXA1 MCF7GSE15244 53570494 53570639 145 0
FOXA1 MCF7GSE15244 53575767 53576143 376 0
FOXA1 MCF7GSE15244 53600673 53601316 643 0
FOXA1 MCF7GSE15244 53638780 53639802 1022 0
FOXA1 MCF7GSE15244 53647810 53648405 595 0
FOXA1 MCF7GSE15244 53675220 53675575 355 0
FOXA1 MCF7GSE15244 53717135 53717575 440 0
FOXA1 MCF7GSE15244 53746913 53747316 403 0
FoxA1 MCF7MACSdata 53527776 53528062 286 0
FoxA1 MCF7MACSdata 53575841 53576168 327 0
FoxA1 MCF7MACSdata 53639069 53639430 361 0
KLF4 hESGSE17917 53727626 53727986 360 0
Myc K562GSE19551 53719294 53719572 278 0
NFkBII GM12878GSE19485 53757383 53759965 2582 0
NRSF JurkatGSE13047 53680308 53680724 416 0
NRSF JurkatSISSRdata 53680354 53680724 370 0
NRSF mAbJurkat 53681386 53682757 1371 0
NRSF-mono JurkatQuESTdata 53680303 53680723 420 0
NRSF-poly JurkatQuESTdata 53680254 53680575 321 0
Nanog ESGSE20650 53757513 53758087 574 0
Nanog hESGSE18292 53579018 53579524 506 0
Oct1 H2O2-HelaGSE14283 53584904 53584931 27 0
Oct1 H2O2-HelaGSE14283 53606426 53606453 27 0
Oct1 H2O2-HelaGSE14283 53819853 53819887 34 0
Oct1 HelaGSE14283 53534079 53534118 39 0
Oct1 HelaGSE14283 53592194 53592231 37 0
Oct1 HelaGSE14283 53593076 53593141 65 0
Oct1 HelaGSE14283 53719718 53719774 56 0
Oct1 HelaGSE14283 53772224 53772262 38 0
Oct1 HelaGSE14283 53814134 53814173 39 0
Oct1 HelaGSE14283 53819853 53819887 34 0
RARA MCF7GSE15244 53510126 53510626 500 0
RARA MCF7GSE15244 53528012 53528674 662 0
RARA MCF7GSE15244 53615118 53615477 359 0
RARA MCF7GSE15244 53638780 53639802 1022 0
RARA MCF7GSE15244 53674259 53674666 407 0
RARA MCF7GSE15244 53717209 53717610 401 0
RARA MCF7GSE15244 53762635 53763377 742 0
RARG MCF7GSE15244 53638682 53639802 1120 0
RARG MCF7GSE15244 53785109 53785853 744 0
STAT1 HeLaGSE12783 53526827 53529683 2856 0
STAT1 HeLaGSE12783 53606247 53607922 1675 0
TFAP2C MCF7GSE21234 53560343 53561321 978 0
TFAP2C MCF7GSE21234 53639628 53640060 432 0
TFAP2C MCF7GSE21234 53673769 53674376 607 0
TFAP2C MCF7GSE21234 53716954 53717621 667 0
TFAP2C MCF7GSE21234 53808914 53809584 670 0
TFAP2C MCF7GSE21234 53813815 53814372 557 0
VDR GM10855-stimGSE22484 53778943 53781289 2346 0
VDR GM10861-stimGSE22484 53778713 53781757 3044 0
hScc1 BcellGSE12603 53718536 53719791 1255 0
hScc1 BcellGSE12603 53727292 53727549 257 0
hScc1 BcellGSE12603 53753177 53753721 544 0
hScc1 BcellGSE12603 53759247 53759896 649 0
hScc1 BcellGSE12603 53783013 53783484 471 0
hScc1 BcellGSE12603 53802275 53802503 228 0
hScc1 BcellGSE12603 53820271 53820853 582 0
hScc1 CdLSGSE12603 53705625 53706167 542 0
hScc1 CdLSGSE12603 53719086 53719912 826 0
hScc1 CdLSGSE12603 53738737 53739210 473 0
hScc1 CdLSGSE12603 53782582 53783410 828 0
hScc1 G2GSE9613 53719086 53719755 669 0
p130 shRbQuiescentGSE19898 53814364 53814781 417 0
p130 shRbSenescentGSE19898 53813960 53814143 183 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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