AutismKB 2.0

Annotation Detail for CACNA1H


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CACNA1H ( CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunit
Band: 16p13.3
Quick LinksEntrez ID:8912; OMIM: 607904; Uniprot ID:CAC1H_HUMAN; ENSEMBL ID: ENSG00000196557; HGNC ID: 1395
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
192N-linked (GlcNAc...) (Potential).
271N-linked (GlcNAc...) (Potential).
783Phosphoserine.
1191Phosphothreonine.
1466N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
192N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
271N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1191Phosphothreonine.Swiss-Prot 53.0
1191PhosphothreoninePhospho.ELM 6.0
1466N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
29O-linkedHMM predict
29Phosphoserine(CDC2)HMM predict
32Phosphoserine(CDC2)HMM predict
32Phosphoserine(ATM)HMM predict
32Phosphoserine(IKK)HMM predict
44Phosphoserine(CK1)HMM predict
49Phosphoserine(CDC2)HMM predict
49Phosphoserine(ATM)HMM predict
49Phosphoserine(IKK)HMM predict
51O-linkedHMM predict
53Phosphoserine(CDC2)HMM predict
53Phosphoserine(CDK)HMM predict
53Phosphoserine(ATM)HMM predict
53PhosphoserineHMM predict
91Phosphoserine(IKK)HMM predict
200Phosphothreonine(PKC)HMM predict
271N-linkedHMM predict
443N-linkedHMM predict
449Phosphoserine(IKK)HMM predict
451O-linkedHMM predict
535Phosphoserine(CDC2)HMM predict
535Phosphoserine(CDK)HMM predict
558O-linkedHMM predict
558Phosphoserine(CDK)HMM predict
558Phosphoserine(ATM)HMM predict
558Phosphoserine(IKK)HMM predict
561Phosphoserine(CDC2)HMM predict
571Phosphoserine(CK1)HMM predict
571Phosphoserine(CK2)HMM predict
574Phosphoserine(CK1)HMM predict
597O-linkedHMM predict
627Phosphoserine(PKG)HMM predict
629O-linkedHMM predict
629Phosphoserine(CDC2)HMM predict
629Phosphoserine(CDK)HMM predict
629Phosphoserine(ATM)HMM predict
653Phosphoserine(MAPK)HMM predict
657Phosphotyrosine(Syk)HMM predict
687O-linkedHMM predict
715Phosphoserine(CK1)HMM predict
715Phosphoserine(CK2)HMM predict
715Phosphoserine(ATM)HMM predict
717Phosphoserine(CK1)HMM predict
719Phosphoserine(ATM)HMM predict
749O-linkedHMM predict
749O-linkedHMM predict
751Phosphothreonine(MAPK)HMM predict
758Phosphoserine(CDC2)HMM predict
758Phosphoserine(CDK)HMM predict
989Phosphoserine(IKK)HMM predict
1025N-linkedHMM predict
1027Phosphoserine(CK2)HMM predict
1061Phosphothreonine(CDC2)HMM predict
1071Phosphoserine(PKG)HMM predict
1073Phosphoserine(ATM)HMM predict
1083Phosphothreonine(MAPK)HMM predict
1087O-linkedHMM predict
1087O-linkedHMM predict
1087Phosphothreonine(MAPK)HMM predict
1107Phosphoserine(PKA)HMM predict
1107Phosphoserine(PKG)HMM predict
1107Phosphoserine(CK1)HMM predict
1107Phosphoserine(IKK)HMM predict
1109O-linkedHMM predict
1110Phosphoserine(ATM)HMM predict
1123O-linkedHMM predict
1127Phosphoserine(CDC2)HMM predict
1127Phosphoserine(IKK)HMM predict
1135O-linkedHMM predict
1144Phosphoserine(PKG)HMM predict
1144Phosphoserine(CAMK2)HMM predict
1144Phosphoserine(IKK)HMM predict
1168Phosphoserine(CK1)HMM predict
1174Phosphoserine(CK2)HMM predict
1174Phosphoserine(CK2)HMM predict
1175Phosphothreonine(CK2)HMM predict
1191Phosphothreonine(MAPK)HMM predict
1191Phosphothreonine(CDK)HMM predict
1198Phosphoserine(PKA)HMM predict
1198Phosphoserine(PKG)HMM predict
1278Phosphoserine(CDC2)HMM predict
1468Phosphoserine(PKG)HMM predict
1587Phosphoserine(PKA)HMM predict
1587Phosphoserine(PKC)HMM predict
1587Phosphoserine(PKG)HMM predict
1587Phosphoserine(PKB)HMM predict
1587PhosphoserineHMM predict
1588Phosphothreonine(PKA)HMM predict
1591Phosphoserine(CDC2)HMM predict
1591Phosphoserine(CDK)HMM predict
1600SulfotyrosineHMM predict
1606Phosphothreonine(PKC)HMM predict
1612Phosphoserine(IKK)HMM predict
1710N-linkedHMM predict
1836Phosphoserine(MAPK)HMM predict
1890Phosphoserine(CDK)HMM predict
1920Phosphoserine(PKA)HMM predict
1920Phosphoserine(PKG)HMM predict
1920Phosphoserine(CAMK2)HMM predict
1920Phosphoserine(IKK)HMM predict
1922O-linkedHMM predict
1970Phosphoserine(MAPK)HMM predict
1987Phosphoserine(CDC2)HMM predict
2003Phosphothreonine(PKC)HMM predict
2008Phosphoserine(PKA)HMM predict
2008Phosphoserine(CK1)HMM predict
2044Phosphothreonine(CDC2)HMM predict
2044Phosphothreonine(CDK)HMM predict
2044PhosphothreonineHMM predict
2054O-linkedHMM predict
2061O-linkedHMM predict
2061Phosphoserine(CDC2)HMM predict
2061Phosphoserine(CDK)HMM predict
2061PhosphoserineHMM predict
2069Phosphothreonine(PKC)HMM predict
2094Phosphoserine(ATM)HMM predict
2114O-linkedHMM predict
2137Phosphoserine(CAMK2)HMM predict
2203O-linkedHMM predict
2207Phosphoserine(PKG)HMM predict
2215Phosphothreonine(PKC)HMM predict
2220Phosphothreonine(PKA)HMM predict
2222Phosphoserine(IKK)HMM predict
2222Phosphoserine(PKB)HMM predict
2222Phosphoserine(PKA)HMM predict
2226Phosphothreonine(CDC2)HMM predict
2287PhosphoserineHMM predict
2289Phosphothreonine(CDC2)HMM predict
2289Phosphothreonine(MAPK)HMM predict
2289Phosphothreonine(CDK)HMM predict
2292O-linkedHMM predict
2295Phosphoserine(CK1)HMM predict
2295Phosphoserine(CK2)HMM predict
2296Phosphoserine(CK1)HMM predict
2308O-linkedHMM predict
2308Phosphoserine(ATM)HMM predict
2335LysineHMM predict
2338SerineHMM predict
2338Phosphoserine(CDC2)HMM predict
2338Phosphoserine(IKK)HMM predict
2340O-linkedHMM predict
2342O-linkedHMM predict
2342O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005407
  • Location:chr16 1143241-1211771
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1130576 1130935 359 12486
CTCF G2GSE9613 1134225 1135021 796 8619
CTCF G2GSE9613 1138423 1139465 1042 4298
CTCF G2GSE9613 1140740 1141081 341 2331
Fos K562GSE19551 1127658 1128020 362 15403
Myc K562GSE19551 1127642 1127997 355 15422
NRSF pAbJurkat 1130576 1130864 288 12522
Nanog hESGSE18292 1135166 1135676 510 7821
TFAP2C MCF7GSE21234 1132701 1133288 587 10247
hScc1 BcellGSE12603 1138423 1138985 562 4538
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 1172199 1172958 759 0
CTCF JurkatGSE12889 1184695 1184898 203 0
CTCF G2GSE9613 1150212 1150942 730 0
CTCF G2GSE9613 1155050 1155761 711 0
CTCF G2GSE9613 1158699 1158961 262 0
CTCF G2GSE9613 1159267 1159633 366 0
CTCF G2GSE9613 1160187 1160576 389 0
CTCF G2GSE9613 1163718 1163922 204 0
CTCF G2GSE9613 1164867 1165772 905 0
CTCF G2GSE9613 1166932 1167108 176 0
CTCF G2GSE9613 1168674 1169461 787 0
CTCF G2GSE9613 1170047 1171551 1504 0
CTCF G2GSE9613 1171994 1172622 628 0
CTCF G2GSE9613 1173918 1174216 298 0
CTCF G2GSE9613 1174692 1174906 214 0
CTCF G2GSE9613 1180270 1180856 586 0
CTCF G2GSE9613 1182808 1184971 2163 0
CTCF G2GSE9613 1192078 1192324 246 0
CTCF G2GSE9613 1196169 1197177 1008 0
CTCF G2GSE9613 1199711 1200397 686 0
CTCF G2GSE9613 1202219 1202530 311 0
CTCF G2GSE9613 1205794 1206747 953 0
CTCF G2GSE9613 1207066 1207912 846 0
CTCF G2GSE9613 1208444 1208645 201 0
CTCF G2GSE9613 1209147 1209779 632 0
CTCF G2GSE9613 1210196 1210546 350 0
ER MCF7GSE19013 1180512 1182132 1620 0
FOXA1 MCF7GSE15244 1144398 1145858 1460 0
FoxA1 MCF7MACSdata 1144887 1145221 334 0
NRSF JurkatGSE13047 1176208 1180948 4740 0
NRSF mAbJurkat 1177306 1179377 2071 0
NRSF-mono JurkatQuESTdata 1176255 1181011 4756 0
NRSF pAbJurkat 1180592 1181867 1275 0
NRSF-poly JurkatQuESTdata 1177194 1179367 2173 0
P300 T30-glioblastomaGSE21026 1172091 1172941 850 0
RARA MCF7GSE15244 1180907 1181971 1064 0
TAF HelaGSE8489 1180979 1181792 813 0
TFAP2C MCF7GSE21234 1172125 1172490 365 0
TFAP2C MCF7GSE21234 1180616 1182192 1576 0
TFAP2C MCF7GSE21234 1183090 1183590 500 0
hScc1 BcellGSE12603 1143436 1143669 233 0
hScc1 BcellGSE12603 1178344 1178586 242 0
hScc1 BcellGSE12603 1181107 1181613 506 0
hScc1 BcellGSE12603 1184493 1185051 558 0
hScc1 BcellGSE12603 1193928 1194182 254 0
hScc1 BcellGSE12603 1209982 1210546 564 0
p130 QuiescentGSE19898 1148434 1148716 282 0
Validated miRNA targets Top
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
9447 mRNA CACNA1H chr16 1143241 1211772 118 mRNA TPSG1 chr16 1211654 1405893Sense/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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved