AutismKB 2.0

Annotation Detail for CACNA1E


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Basic Information Top
Gene Symbol:CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 )
Gene Full Name: calcium channel, voltage-dependent, R type, alpha 1E subunit
Band: 1q25.3
Quick LinksEntrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14Phosphoserine (By similarity).
28Phosphothreonine (By similarity).
254N-linked (GlcNAc...) (Potential).
736Phosphoserine (By similarity).
855Phosphoserine (By similarity).
1566N-linked (GlcNAc...) (Potential).
1571N-linked (GlcNAc...) (Potential).
1734Phosphoserine; by PKA (Potential).
2113Phosphoserine (By similarity).
2137Phosphoserine (By similarity).
Location(AA) Modifications Resource
14Phosphoserine (By similarity).Swiss-Prot 53.0
28Phosphothreonine (By similarity).Swiss-Prot 53.0
254N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
736Phosphoserine (By similarity).Swiss-Prot 53.0
854Phosphoserine (By similarity).Swiss-Prot 53.0
1565N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1570N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1733Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
2112Phosphoserine (By similarity).Swiss-Prot 53.0
2136Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
14Phosphoserine(IKK)HMM predict
33Phosphoserine(CK2)HMM predict
33O-linkedHMM predict
188Phosphothreonine(PKC)HMM predict
254N-linkedHMM predict
255N-linkedHMM predict
414Phosphothreonine(PKC)HMM predict
418Phosphoserine(PKG)HMM predict
420Phosphothreonine(PKA)HMM predict
424Phosphothreonine(PKC)HMM predict
440Phosphothreonine(CDK)HMM predict
446Phosphoserine(PKG)HMM predict
691N-linkedHMM predict
696N-linkedHMM predict
713Phosphothreonine(CK2)HMM predict
793Phosphoserine(ATM)HMM predict
871Phosphothreonine(CDK)HMM predict
871Phosphothreonine(MAPK)HMM predict
927Phosphothreonine(PKC)HMM predict
932Phosphoserine(PKG)HMM predict
934Phosphoserine(CK1)HMM predict
940Phosphoserine(PKB)HMM predict
942Phosphoserine(CK1)HMM predict
942Phosphoserine(ATM)HMM predict
942Phosphoserine(IKK)HMM predict
1003Phosphothreonine(MAPK)HMM predict
1028Phosphoserine(CK1)HMM predict
1046Phosphoserine(PKG)HMM predict
1046Phosphoserine(ATM)HMM predict
1046Phosphoserine(CAMK2)HMM predict
1059O-linkedHMM predict
1066O-linkedHMM predict
1067O-linkedHMM predict
1070O-linkedHMM predict
1089N-linkedHMM predict
1096Phosphoserine(CDC2)HMM predict
1122Phosphothreonine(PKC)HMM predict
1267Phosphothreonine(PKC)HMM predict
1324Phosphothreonine(CK2)HMM predict
1565N-linkedHMM predict
1570N-linkedHMM predict
1608Phosphotyrosine(Jak)HMM predict
1729Phosphothreonine(PKC)HMM predict
1733Phosphoserine(IKK)HMM predict
1760Phosphotyrosine(INSR)HMM predict
1764Phosphotyrosine(Syk)HMM predict
1934Phosphotyrosine(INSR)HMM predict
1938Phosphoserine(CDC2)HMM predict
1941Phosphoserine(ATM)HMM predict
2019Phosphoserine(PKG)HMM predict
2029N-linkedHMM predict
2037Phosphoserine(CK1)HMM predict
2046Phosphotyrosine(SRC)HMM predict
2046Phosphotyrosine(Syk)HMM predict
2052Phosphoserine(PKA)HMM predict
2052Phosphoserine(PKG)HMM predict
2052Phosphoserine(PKB)HMM predict
2066Phosphoserine(CK1)HMM predict
2080MethylarginineHMM predict
2093Phosphoserine(MAPK)HMM predict
2101Phosphoserine(CK1)HMM predict
2118PhosphoserineHMM predict
2118Phosphoserine(PKG)HMM predict
2118Phosphoserine(PKC)HMM predict
2120Phosphoserine(CDC2)HMM predict
2120Phosphoserine(IKK)HMM predict
2120Phosphoserine(ATM)HMM predict
2120Phosphoserine(CDK)HMM predict
2122Phosphoserine(CK1)HMM predict
2126Phosphoserine(ATM)HMM predict
2126PhosphoserineHMM predict
2128Phosphothreonine(CDC2)HMM predict
2128Phosphothreonine(CDK)HMM predict
2128Phosphothreonine(MAPK)HMM predict
2141O-linkedHMM predict
2141Phosphoserine(CK1)HMM predict
2144O-linkedHMM predict
2146O-linkedHMM predict
2150Phosphothreonine(CDC2)HMM predict
2150Phosphothreonine(MAPK)HMM predict
2154Phosphoserine(PKA)HMM predict
2154O-linkedHMM predict
2182Phosphoserine(MAPK)HMM predict
2182Phosphoserine(ATM)HMM predict
2188Phosphoserine(IKK)HMM predict
2192Phosphoserine(IKK)HMM predict
2210O-linkedHMM predict
2212Phosphoserine(CDC2)HMM predict
2212Phosphoserine(MAPK)HMM predict
2218Phosphoserine(ATM)HMM predict
2241Phosphoserine(CK2)HMM predict
2264Phosphothreonine(PKC)HMM predict
2304Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000721
  • Location:chr1 179719338-180037335
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 179714886 179715201 315 4295
CTCF CD4SISSRdata 179714886 179715201 315 4295
CTCF HelaGSE12889 179714987 179715272 285 4209
CTCF G2GSE9613 179714919 179715252 333 4253
Fos K562GSE19551 179705559 179705964 405 13577
P300 T0-glioblastomaGSE21026 179705506 179706017 511 13577
P300 T30-glioblastomaGSE21026 179705467 179706028 561 13591
RARA MCF7GSE15244 179705213 179705767 554 13849
Rb SenescentGSE19898 179715035 179715313 278 4165
hScc1 BcellGSE12603 179714839 179715487 648 4176
hScc1 BcellGSE12603 179717966 179718769 803 971
hScc1 CdLSGSE12603 179714732 179715999 1267 3973
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 179740088 179740549 461 0
CTCF G2GSE9613 179747004 179747170 166 0
CTCF G2GSE9613 179793423 179793638 215 0
CTCF G2GSE9613 179966745 179967043 298 0
CTCF G2GSE9613 179968581 179968799 218 0
CTCF G2GSE9613 179969307 179969481 174 0
CTCF G2GSE9613 179975025 179975320 295 0
CTCF G2GSE9613 180035118 180035344 226 0
GABP GMOGSE8489 179964159 179965782 1623 0
GABP HepG2GSE8489 179964229 179965818 1589 0
H3K27me3 colorectalcancer 179718873 179721579 2706 0
Myc K562GSE19551 179823593 179824061 468 0
NFkBII GM12878GSE19485 179743878 179745410 1532 0
NFkBII GM12892GSE19485 179743901 179746027 2126 0
NRSF JurkatGSE13047 179720655 179722161 1506 0
NRSF JurkatGSE13047 180001334 180001848 514 0
NRSF JurkatSISSRdata 180001472 180001627 155 0
NRSF mAbJurkat 179719310 179720848 1538 0
NRSF mAbJurkat 179721090 179722257 1167 0
NRSF mAbJurkat 179722759 179724945 2186 0
NRSF-mono JurkatQuESTdata 179721199 179722030 831 0
NRSF-mono JurkatQuESTdata 180001358 180001719 361 0
NRSF-poly JurkatQuESTdata 179720978 179722160 1182 0
NRSF-poly JurkatQuESTdata 180001384 180001791 407 0
Oct1 H2O2-HelaGSE14283 179766023 179766074 51 0
Oct1 H2O2-HelaGSE14283 179780511 179780537 26 0
Oct1 H2O2-HelaGSE14283 179797264 179797308 44 0
Oct1 H2O2-HelaGSE14283 179982061 179982090 29 0
Oct1 H2O2-HelaGSE14283 179987682 179987729 47 0
Oct1 H2O2-HelaGSE14283 180007281 180007309 28 0
Oct1 HelaGSE14283 179766023 179766074 51 0
Oct1 HelaGSE14283 179780511 179780545 34 0
Oct1 HelaGSE14283 179797264 179797312 48 0
Oct1 HelaGSE14283 179982061 179982093 32 0
Oct1 HelaGSE14283 179987637 179987728 91 0
Oct1 HelaGSE14283 180007269 180007310 41 0
Oct1 HelaGSE14283 180030364 180030391 27 0
Rb QuiescentGSE19898 179880617 179880782 165 0
SRF GMOGSE8489 179964159 179965818 1659 0
SRF HepG2GSE8489 179809012 179809319 307 0
SRF HepG2GSE8489 179964193 179965782 1589 0
SRF HepG2GSE8489 179966928 179967401 473 0
Sox2 hESGSE18292 179975404 179975590 186 0
Stat6 IL-4-hr4GSE17850 179726435 179727010 575 0
Stat6 IL-4-hr4GSE17850 179837451 179837992 541 0
TFAP2C MCF7GSE21234 179739932 179740607 675 0
TFAP2C MCF7GSE21234 179750066 179750786 720 0
TFAP2C MCF7GSE21234 179883511 179884030 519 0
hScc1 BcellGSE12603 179721152 179721757 605 0
hScc1 BcellGSE12603 179911795 179912377 582 0
hScc1 BcellGSE12603 179916146 179916400 254 0
hScc1 BcellGSE12603 180034188 180034517 329 0
hScc1 CdLSGSE12603 179911795 179912520 725 0
p63 keratinocytesGSE17611 180003746 180005062 1316 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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