AutismKB 2.0

Annotation Detail for GAK


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Basic Information Top
Gene Symbol:GAK ( FLJ16629,FLJ40395,MGC99654 )
Gene Full Name: cyclin G associated kinase
Band: 4p16.3
Quick LinksEntrez ID:2580; OMIM: 602052; Uniprot ID:GAK_HUMAN; ENSEMBL ID: ENSG00000178950; HGNC ID: 4113
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Phosphoserine.
326Phosphoserine.
456Phosphoserine.
615Phosphotyrosine.
770Phosphoserine.
776Phosphothreonine.
778Phosphoserine.
780Phosphoserine.
805Phosphothreonine.
815Phosphoserine.
817Phosphoserine.
826Phosphoserine.
829Phosphoserine.
834Phosphoserine.
837Phosphoserine.
838Phosphoserine.
939Phosphoserine.
1070Phosphoserine.
1073Phosphoserine.
1096Phosphoserine.
1176Phosphoserine.
1185Phosphoserine.
Location(AA) Modifications Resource
829Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
73Phosphoserine(PKG)HMM predict
197Phosphothreonine(PKC)HMM predict
204SulfotyrosineHMM predict
221N-linkedHMM predict
222Phosphothreonine(PKA)HMM predict
305Phosphoserine(PKG)HMM predict
305Phosphoserine(CK1)HMM predict
344O-linkedHMM predict
394Phosphoserine(CK1)HMM predict
454N-linkedHMM predict
484Phosphothreonine(Jak)HMM predict
515Phosphoserine(PKG)HMM predict
526S-palmitoylHMM predict
569Phosphothreonine(MAPK)HMM predict
593Phosphoserine(IKK)HMM predict
610Phosphoserine(PKB)HMM predict
615Phosphotyrosine(INSR)HMM predict
615Phosphotyrosine(Jak)HMM predict
615Phosphotyrosine(Syk)HMM predict
615Phosphotyrosine(SRC)HMM predict
615SulfotyrosineHMM predict
677N-linkedHMM predict
724N-linkedHMM predict
760O-linkedHMM predict
778Phosphoserine(ATM)HMM predict
780Phosphoserine(IKK)HMM predict
780Phosphoserine(ATM)HMM predict
780O-linkedHMM predict
783O-linkedHMM predict
783Phosphoserine(CK2)HMM predict
805Phosphothreonine(CK2)HMM predict
809N-linkedHMM predict
812Phosphoserine(CK2)HMM predict
812Phosphoserine(CK1)HMM predict
826Phosphoserine(CK2)HMM predict
829Phosphoserine(CK1)HMM predict
939Phosphoserine(CDC2)HMM predict
939Phosphoserine(MAPK)HMM predict
945Phosphoserine(ATM)HMM predict
945O-linkedHMM predict
949Phosphothreonine(CDC2)HMM predict
968O-linkedHMM predict
970N-linkedHMM predict
971N-linkedHMM predict
1001Phosphoserine(IKK)HMM predict
1037C-linkedHMM predict
1046O-linkedHMM predict
1046O-linkedHMM predict
1051O-linkedHMM predict
1051O-linkedHMM predict
1051Phosphothreonine(MAPK)HMM predict
1060Phosphoserine(CDC2)HMM predict
1060O-linkedHMM predict
1073Phosphoserine(IKK)HMM predict
1073Phosphoserine(CAMK2)HMM predict
1112PhosphothreonineHMM predict
1112Phosphothreonine(MAPK)HMM predict
1121Phosphothreonine(PKC)HMM predict
1122O-linkedHMM predict
1130Phosphoserine(IKK)HMM predict
1284Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005255
  • Location:chr4 833065-915974
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 915248 916828 1580 64
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 828820 829627 807 3842
hScc1 BcellGSE12603 827166 827446 280 5760
hScc1 BcellGSE12603 832185 832561 376 693
hScc1 G2GSE9613 828996 829556 560 3790
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 868022 869923 1901 0
CTCF JurkatGSE12889 860672 860822 150 0
CTCF G2GSE9613 831999 834862 2863 0
CTCF G2GSE9613 835198 836098 900 0
CTCF G2GSE9613 836546 837561 1015 0
CTCF G2GSE9613 839943 840413 470 0
CTCF G2GSE9613 842100 843281 1181 0
CTCF G2GSE9613 843514 843848 334 0
CTCF G2GSE9613 844360 844591 231 0
CTCF G2GSE9613 848288 848677 389 0
CTCF G2GSE9613 849133 852716 3583 0
CTCF G2GSE9613 853932 855252 1320 0
CTCF G2GSE9613 856152 856826 674 0
CTCF G2GSE9613 859822 861523 1701 0
CTCF G2GSE9613 862513 862697 184 0
CTCF G2GSE9613 863572 863711 139 0
CTCF G2GSE9613 864276 869524 5248 0
CTCF G2GSE9613 869890 870760 870 0
CTCF G2GSE9613 871788 873805 2017 0
CTCF G2GSE9613 874185 874709 524 0
CTCF G2GSE9613 875170 876773 1603 0
CTCF G2GSE9613 877186 877994 808 0
CTCF G2GSE9613 878822 879731 909 0
CTCF G2GSE9613 880152 881087 935 0
CTCF G2GSE9613 881742 882145 403 0
CTCF G2GSE9613 882674 883822 1148 0
CTCF G2GSE9613 884526 885699 1173 0
CTCF G2GSE9613 886414 887463 1049 0
CTCF G2GSE9613 887891 888412 521 0
CTCF G2GSE9613 889577 891198 1621 0
CTCF G2GSE9613 891544 892143 599 0
CTCF G2GSE9613 892950 895329 2379 0
CTCF G2GSE9613 895879 896057 178 0
CTCF G2GSE9613 897605 899142 1537 0
CTCF G2GSE9613 900975 901232 257 0
CTCF G2GSE9613 902512 903486 974 0
CTCF G2GSE9613 908916 909324 408 0
CTCF G2GSE9613 910144 910611 467 0
CTCF G2GSE9613 912857 913323 466 0
CTCF G2GSE9613 915220 916200 980 0
FoxA1 MCF7MACSdata 913759 914076 317 0
GABP HelaGSE8489 902512 903157 645 0
H3K4me2 HCT116GSE10453 914447 915531 1084 0
H3K4me3 colorectalcancer 914447 915449 1002 0
H3ac HepG2E 902512 903271 759 0
H3ac HepG2E 913882 915555 1673 0
NFkBII GM12878GSE19485 907506 909367 1861 0
NRSF mAbJurkat 913882 914058 176 0
TFAP2C MCF7GSE21234 908302 908896 594 0
hScc1 BcellGSE12603 833735 834330 595 0
hScc1 BcellGSE12603 836546 836967 421 0
hScc1 BcellGSE12603 837275 837561 286 0
hScc1 BcellGSE12603 839943 840413 470 0
hScc1 BcellGSE12603 842100 842950 850 0
hScc1 BcellGSE12603 844428 844591 163 0
hScc1 BcellGSE12603 849286 850591 1305 0
hScc1 BcellGSE12603 853969 854367 398 0
hScc1 BcellGSE12603 855991 856826 835 0
hScc1 BcellGSE12603 857199 857418 219 0
hScc1 BcellGSE12603 859785 860333 548 0
hScc1 BcellGSE12603 861261 861492 231 0
hScc1 BcellGSE12603 862513 862697 184 0
hScc1 BcellGSE12603 865115 865636 521 0
hScc1 BcellGSE12603 866861 867211 350 0
hScc1 BcellGSE12603 868386 868900 514 0
hScc1 BcellGSE12603 872147 872885 738 0
hScc1 BcellGSE12603 874185 874474 289 0
hScc1 BcellGSE12603 875197 876604 1407 0
hScc1 BcellGSE12603 879589 879731 142 0
hScc1 BcellGSE12603 880152 880502 350 0
hScc1 BcellGSE12603 881742 882048 306 0
hScc1 BcellGSE12603 888203 888487 284 0
hScc1 BcellGSE12603 889768 890894 1126 0
hScc1 BcellGSE12603 891657 892143 486 0
hScc1 BcellGSE12603 893838 895096 1258 0
hScc1 BcellGSE12603 895879 896092 213 0
hScc1 BcellGSE12603 897565 899142 1577 0
hScc1 BcellGSE12603 902769 903271 502 0
hScc1 BcellGSE12603 915260 916653 1393 0
hScc1 G2GSE9613 842441 843118 677 0
hScc1 G2GSE9613 864702 865294 592 0
hScc1 G2GSE9613 868972 869524 552 0
hScc1 G2GSE9613 870412 870760 348 0
hScc1 G2GSE9613 875264 876094 830 0
hScc1 G2GSE9613 882712 883989 1277 0
hScc1 G2GSE9613 886887 887506 619 0
hScc1 G2GSE9613 887957 888487 530 0
hScc1 G2GSE9613 889577 889875 298 0
hScc1 G2GSE9613 897605 899078 1473 0
hScc1 G2GSE9613 915531 916127 596 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
915 Unknown pSILAC LNA_let-7b GAK up 25-50% 18668040
1157 Unknown pSILAC miR-1 GAK down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000178950 n_a n_a n_a "epithelium, leukocyte, lymphocyte, macrophage, muscle cell, lymphoblast" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000178950 n_a n_a n_a "epithelium, leukocyte, lymphocyte, macrophage, muscle cell, lymphoblast" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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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