AutismKB 2.0

Annotation Detail for CASK


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CASK ( CAGH39,CAMGUK,CMG,FGS4,FLJ22219,FLJ31914,LIN2,MICPCH,TNRC8 )
Gene Full Name: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Band: Xp11.4
Quick LinksEntrez ID:8573; OMIM: 300172; Uniprot ID:CSKP_HUMAN; ENSEMBL ID: ENSG00000147044; HGNC ID: 1497
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
151Phosphoserine; by autocatalysis.
155Phosphoserine; by autocatalysis.
571Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
51Phosphoserine(CDC2)HMM predict
64Phosphoserine(PKA)HMM predict
64Phosphoserine(IKK)HMM predict
88Phosphotyrosine(INSR)HMM predict
353Phosphoserine(CK1)HMM predict
392Phosphothreonine(PKC)HMM predict
395Phosphoserine(CDK)HMM predict
395Phosphoserine(CDC2)HMM predict
452Phosphotyrosine(Syk)HMM predict
453Phosphoserine(CK1)HMM predict
460Phosphothreonine(CDK)HMM predict
460Phosphothreonine(MAPK)HMM predict
465Phosphoserine(CDC2)HMM predict
484N-linkedHMM predict
546N-linkedHMM predict
575PhosphoserineHMM predict
584Phosphoserine(CK1)HMM predict
596O-linkedHMM predict
598N-linkedHMM predict
599N-linkedHMM predict
602O-linkedHMM predict
606Phosphoserine(IKK)HMM predict
606Phosphoserine(CK1)HMM predict
616Phosphotyrosine(EGFR)HMM predict
666N-linkedHMM predict
674Phosphoserine(MAPK)HMM predict
741Phosphothreonine(PKA)HMM predict
789Phosphotyrosine(Jak)HMM predict
805Phosphotyrosine(Syk)HMM predict
808SulfotyrosineHMM predict
822Phosphothreonine(PKC)HMM predict
920ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003688
  • Location:chrX 41264287-41667211
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 41667144 41668000 856 361
TFAP2C MCF7GSE21234 41675740 41676062 322 8690
hScc1 BcellGSE12603 41667545 41667896 351 509
hScc1 CdLSGSE12603 41667204 41668500 1296 641
hScc1 G2GSE9613 41666528 41668056 1528 81
hScc1 G2GSE9613 41668535 41668830 295 1471
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 41262447 41262480 33 1824
Oct1 HelaGSE14283 41262446 41262479 33 1825
p130 SenescentGSE19898 41258354 41258630 276 5796
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 41525710 41525971 261 0
CTCF CD4SISSRdata 41525710 41525971 261 0
CTCF G2GSE9613 41265000 41265343 343 0
CTCF G2GSE9613 41273187 41273492 305 0
CTCF G2GSE9613 41402743 41402947 204 0
CTCF G2GSE9613 41525650 41525933 283 0
ER E2-MCF7GSE14664 41559995 41560028 33 0
ER Fulvestrant-MCF7GSE14664 41552819 41552853 34 0
FOXA1 MCF7GSE15244 41575053 41575419 366 0
Gata2 K562GSE18868 41365351 41366005 654 0
H3ac HepG2E 41665831 41666858 1027 0
NFkBII GM12878GSE19485 41580837 41582676 1839 0
Nanog ESGSE20650 41331927 41332501 574 0
Nanog ESGSE20650 41445863 41446275 412 0
Nanog ESGSE20650 41484074 41484507 433 0
Nanog ESGSE20650 41547218 41547535 317 0
Nanog hESGSE18292 41445800 41446287 487 0
Nanog hESGSE18292 41476560 41476827 267 0
Oct1 H2O2-HelaGSE14283 41326762 41326822 60 0
Oct1 H2O2-HelaGSE14283 41418388 41418421 33 0
Oct1 H2O2-HelaGSE14283 41457658 41457699 41 0
Oct1 H2O2-HelaGSE14283 41459049 41459078 29 0
Oct1 H2O2-HelaGSE14283 41490611 41490650 39 0
Oct1 H2O2-HelaGSE14283 41528747 41528775 28 0
Oct1 H2O2-HelaGSE14283 41531307 41531344 37 0
Oct1 H2O2-HelaGSE14283 41559996 41560036 40 0
Oct1 HelaGSE14283 41326762 41326832 70 0
Oct1 HelaGSE14283 41341440 41341488 48 0
Oct1 HelaGSE14283 41418388 41418421 33 0
Oct1 HelaGSE14283 41457659 41457698 39 0
Oct1 HelaGSE14283 41459049 41459077 28 0
Oct1 HelaGSE14283 41490611 41490650 39 0
Oct1 HelaGSE14283 41531309 41531343 34 0
Oct1 HelaGSE14283 41552821 41552852 31 0
Oct1 HelaGSE14283 41559997 41560036 39 0
PAX3-FKHR Rh4GSE19063 41347757 41348466 709 0
RARA MCF7GSE15244 41548566 41548783 217 0
RARA MCF7GSE15244 41575053 41575419 366 0
RARA MCF7GSE15244 41650344 41651920 1576 0
TFAP2C MCF7GSE21234 41478753 41479134 381 0
hScc1 BcellGSE12603 41302713 41303077 364 0
hScc1 BcellGSE12603 41503944 41504368 424 0
hScc1 BcellGSE12603 41525692 41525933 241 0
hScc1 CdLSGSE12603 41302713 41303077 364 0
hScc1 CdLSGSE12603 41503944 41504441 497 0
hScc1 CdLSGSE12603 41525556 41526194 638 0
hScc1 CdLSGSE12603 41628500 41628677 177 0
hScc1 G2GSE9613 41265073 41265417 344 0
hScc1 G2GSE9613 41302713 41303200 487 0
hScc1 G2GSE9613 41402743 41403130 387 0
hScc1 G2GSE9613 41476741 41476888 147 0
hScc1 G2GSE9613 41525593 41526005 412 0
hScc1 G2GSE9613 41542313 41542560 247 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
27541 mRNA GPR34 chrX 41304512 41312780 8268 mRNA CASK chrX 41135596 41538522 Non-exonic Bidirectional (NOB) 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