AutismKB 2.0

Annotation Detail for CACNA1B


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Basic Information Top
Gene Symbol:CACNA1B ( BIII,CACNL1A5,CACNN,Cav2.2 )
Gene Full Name: calcium channel, voltage-dependent, N type, alpha 1B subunit
Band: 9q34.3
Quick LinksEntrez ID:774; OMIM: 601012; Uniprot ID:CAC1B_HUMAN; ENSEMBL ID: ENSG00000148408; HGNC ID: 1389
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
256N-linked (GlcNAc...) (Potential).
455Phosphoserine.
745Phosphoserine (By similarity).
783Phosphoserine (By similarity).
1563N-linked (GlcNAc...) (Potential).
1675N-linked (GlcNAc...) (Potential).
1719Phosphoserine; by PKA (Potential).
1968Phosphoserine.
2256Phosphoserine (By similarity).
Location(AA) Modifications Resource
256N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
455Phosphoserine.Swiss-Prot 53.0
455PhosphoserinePhospho.ELM 6.0
745Phosphoserine (By similarity).Swiss-Prot 53.0
783Phosphoserine (By similarity).Swiss-Prot 53.0
1563N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1675N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1719Phosphoserine (by PKA) (Potential).Swiss-Prot 53.0
2256Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
72N-linkedHMM predict
124Phosphothreonine(MAPK)HMM predict
190Phosphothreonine(PKC)HMM predict
256N-linkedHMM predict
421Phosphothreonine(PKC)HMM predict
452Phosphoserine(PKG)HMM predict
455O-linkedHMM predict
511Phosphothreonine(PKA)HMM predict
641Phosphothreonine(MAPK)HMM predict
697N-linkedHMM predict
702N-linkedHMM predict
719Phosphothreonine(CK2)HMM predict
893Phosphoserine(CK1)HMM predict
955MethylarginineHMM predict
959MethylarginineHMM predict
997Phosphothreonine(CK2)HMM predict
1002Phosphothreonine(CK2)HMM predict
1063N-linkedHMM predict
1069Phosphoserine(ATM)HMM predict
1177Phosphoserine(CDC2)HMM predict
1261Phosphothreonine(PKC)HMM predict
1315PhosphoserineHMM predict
1348SulfotyrosineHMM predict
1348Phosphotyrosine(Jak)HMM predict
1385Phosphoserine(CDC2)HMM predict
1601Phosphotyrosine(Jak)HMM predict
1631Phosphoserine(CK1)HMM predict
1675N-linkedHMM predict
1715Phosphothreonine(PKC)HMM predict
1719Phosphoserine(IKK)HMM predict
1867N-linkedHMM predict
1919Phosphoserine(CK1)HMM predict
1944Phosphothreonine(PKA)HMM predict
2001Phosphoserine(CAMK2)HMM predict
2021Phosphoserine(PKG)HMM predict
2038Phosphothreonine(CDC2)HMM predict
2045Phosphoserine(ATM)HMM predict
2045O-linkedHMM predict
2048O-linkedHMM predict
2066PhosphoserineHMM predict
2118O-linkedHMM predict
2118Phosphoserine(IKK)HMM predict
2119Phosphoserine(CDC2)HMM predict
2120Phosphoserine(CK1)HMM predict
2121Phosphoserine(CK1)HMM predict
2122Phosphoserine(CK1)HMM predict
2144O-linkedHMM predict
2146O-linkedHMM predict
2147O-linkedHMM predict
2151Phosphoserine(MAPK)HMM predict
2153O-linkedHMM predict
2165O-linkedHMM predict
2165O-linkedHMM predict
2169N-linkedHMM predict
2171Phosphoserine(CDC2)HMM predict
2176O-linkedHMM predict
2177Phosphoserine(IKK)HMM predict
2177O-linkedHMM predict
2181Phosphothreonine(MAPK)HMM predict
2181Phosphothreonine(CDC2)HMM predict
2184MethylarginineHMM predict
2193Phosphothreonine(CDK)HMM predict
2193Phosphothreonine(MAPK)HMM predict
2196O-linkedHMM predict
2196Phosphothreonine(MAPK)HMM predict
2207N-linkedHMM predict
2224Phosphoserine(CDC2)HMM predict
2245Phosphoserine(ATM)HMM predict
2269Phosphoserine(CK2)HMM predict
2292Phosphoserine(PKG)HMM predict
2295Phosphoserine(IKK)HMM predict
2295O-linkedHMM predict
2295Phosphoserine(PKA)HMM predict
2302Phosphoserine(ATM)HMM predict
2302Phosphoserine(IKK)HMM predict
2302Phosphoserine(CK1)HMM predict
2329SerineHMM predict
2339CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000718
  • Location:chr9 139892061-140136451
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 139888316 139889527 1211 3140
hScc1 BcellGSE12603 139880883 139881398 515 10921
hScc1 BcellGSE12603 139888888 139889751 863 2742
hScc1 BcellGSE12603 139891473 139892328 855 161
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct4 ESGSE20650 140143297 140143487 190 6941
hScc1 BcellGSE12603 140141614 140142624 1010 5668
hScc1 BcellGSE12603 140155474 140155773 299 19172
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 140036656 140036820 164 0
CTCF HelaGSE12889 140115374 140115558 184 0
FOXA1 MCF7GSE15244 140127408 140128347 939 0
Fos K562GSE19551 139961188 139961633 445 0
Fos K562GSE19551 139996492 139996838 346 0
Fos K562GSE19551 140042784 140043211 427 0
HIF1 HypoHepG2 139937420 139937760 340 0
HIF1 HypoHepG2 140032121 140033997 1876 0
HIF1 HypoHepG2 140127794 140128428 634 0
NRSF JurkatGSE13047 139892874 139893595 721 0
NRSF JurkatGSE13047 139896984 139901352 4368 0
NRSF JurkatGSE13047 139904774 139905532 758 0
NRSF mAbJurkat 139896780 139901762 4982 0
NRSF-mono JurkatQuESTdata 139892828 139893399 571 0
NRSF-mono JurkatQuESTdata 139897010 139901328 4318 0
NRSF-mono JurkatQuESTdata 139904837 139905525 688 0
NRSF-poly JurkatQuESTdata 139892662 139893595 933 0
NRSF-poly JurkatQuESTdata 139896979 139901086 4107 0
NRSF-poly JurkatQuESTdata 139904907 139905460 553 0
Nanog hESGSE18292 139960475 139960783 308 0
TFAP2C MCF7GSE21234 139896017 139896511 494 0
TFAP2C MCF7GSE21234 139905053 139905495 442 0
TFAP2C MCF7GSE21234 139996466 139997102 636 0
TFAP2C MCF7GSE21234 140027397 140028027 630 0
TFAP2C MCF7GSE21234 140067102 140067536 434 0
TFAP2C MCF7GSE21234 140075743 140076392 649 0
TFAP2C MCF7GSE21234 140106278 140106710 432 0
hScc1 BcellGSE12603 139898175 139898615 440 0
hScc1 BcellGSE12603 139903250 139903644 394 0
hScc1 BcellGSE12603 139906104 139906614 510 0
hScc1 BcellGSE12603 139935565 139936603 1038 0
hScc1 BcellGSE12603 139981637 139981867 230 0
hScc1 BcellGSE12603 139989142 139989466 324 0
hScc1 BcellGSE12603 139991088 139991408 320 0
hScc1 BcellGSE12603 140037327 140038262 935 0
hScc1 BcellGSE12603 140068364 140068921 557 0
hScc1 BcellGSE12603 140075119 140075760 641 0
hScc1 BcellGSE12603 140111914 140112166 252 0
hScc1 BcellGSE12603 140134409 140135370 961 0
hScc1 G2GSE9613 140127150 140128462 1312 0
p130 SGSE7516 139894316 139894460 144 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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