AutismKB 2.0

Annotation Detail for CACNB1


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Basic Information Top
Gene Symbol:CACNB1 ( CAB1,CACNLB1,CCHLB1,MGC41896 )
Gene Full Name: calcium channel, voltage-dependent, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:782; OMIM: 114207; Uniprot ID:CACB1_HUMAN; ENSEMBL ID: ENSG00000067191; HGNC ID: 1401
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
186Phosphoserine (By similarity).
418Phosphothreonine.
499Phosphothreonine (By similarity).
Location(AA) Modifications Resource
186Phosphoserine (By similarity).Swiss-Prot 53.0
418Phosphothreonine.Swiss-Prot 53.0
418PhosphothreoninePhospho.ELM 6.0
499Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
8O-linkedHMM predict
15Phosphoserine(ATM)HMM predict
26Phosphoserine(CDC2)HMM predict
26Phosphoserine(CDK)HMM predict
44Phosphoserine(IKK)HMM predict
45Phosphothreonine(CK2)HMM predict
46O-linkedHMM predict
49O-linkedHMM predict
51O-linkedHMM predict
64O-linkedHMM predict
112N-linkedHMM predict
114Phosphoserine(ATM)HMM predict
161Phosphoserine(CDC2)HMM predict
186Phosphoserine(IKK)HMM predict
189N-linkedHMM predict
192Phosphoserine(CK1)HMM predict
193Phosphoserine(CK1)HMM predict
205O-linkedHMM predict
205Phosphothreonine(MAPK)HMM predict
205Phosphothreonine(PKA)HMM predict
242Phosphotyrosine(Syk)HMM predict
242Phosphotyrosine(INSR)HMM predict
270Phosphothreonine(PKA)HMM predict
283N-linkedHMM predict
295Phosphothreonine(PKC)HMM predict
343Phosphotyrosine(Jak)HMM predict
362Phosphoserine(ATM)HMM predict
416O-linkedHMM predict
417O-linkedHMM predict
418O-linkedHMM predict
418Phosphothreonine(CDK)HMM predict
425N-linkedHMM predict
436Phosphoserine(CDC2)HMM predict
436Phosphoserine(MAPK)HMM predict
441O-linkedHMM predict
481O-linkedHMM predict
482O-linkedHMM predict
490Phosphothreonine(PKC)HMM predict
504Phosphothreonine(MAPK)HMM predict
518Phosphoserine(IKK)HMM predict
540Phosphothreonine(MAPK)HMM predict
555Phosphotyrosine(INSR)HMM predict
555Phosphotyrosine(EGFR)HMM predict
555Phosphotyrosine(Syk)HMM predict
555SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000723
  • Location:chr17 34583234-34607426
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34574426 34574681 255 8681
CTCF CD4SISSRdata 34574426 34574681 255 8681
CTCF G2GSE9613 34574433 34575053 620 8492
ER E2-MCF7GSE14664 34578428 34578579 151 4731
ER E2-MCF7GSE14664 34578632 34578735 103 4551
ER Fulvestrant-MCF7GSE14664 34582243 34582279 36 974
Oct1 HelaGSE14283 34582240 34582282 42 974
Oct1 HelaGSE14283 34582543 34582575 32 676
Rb SenescentGSE19898 34574586 34574914 328 8485
TFAP2C MCF7GSE21234 34576325 34576709 384 6718
hScc1 CdLSGSE12603 34574397 34574875 478 8599
p130 QuiescentGSE19898 34574829 34575066 237 8287
p130 SenescentGSE19898 34574567 34574853 286 8525
p130 shRbQuiescentGSE19898 34574418 34575140 722 8456
p130 shRbSenescentGSE19898 34574371 34575067 696 8516
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 34581513 34585689 4176 0
CTCF CD4GSE12889 34584684 34585062 378 0
CTCF CD4SISSRdata 34584684 34585062 378 0
CTCF JurkatGSE12889 34584728 34584995 267 0
CTCF G2GSE9613 34584572 34585540 968 0
ER E2-MCF7GSE14664 34586279 34586486 207 0
ER E2-MCF7GSE14664 34586501 34586611 110 0
ER Fulvestrant-MCF7GSE14664 34586278 34586369 91 0
ER Fulvestrant-MCF7GSE14664 34586403 34586441 38 0
hScc1 BcellGSE12603 34584608 34585113 505 0
hScc1 CdLSGSE12603 34584441 34585157 716 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 21098446
hsa-miR-101 hsa-mir-101-2 9 21098446
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

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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