AutismKB 2.0

Annotation Detail for WBSCR17


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Basic Information Top
Gene Symbol:WBSCR17 ( DKFZp434I2216,DKFZp761D2324,GALNT16,GALNT20,GALNTL3 )
Gene Full Name: Williams-Beuren syndrome chromosome region 17
Band: 7q11.23
Quick LinksEntrez ID:64409; OMIM: NA; Uniprot ID:GLTL3_HUMAN; ENSEMBL ID: ENSG00000185274; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50N-linked (GlcNAc...) (Potential).
461N-linked (GlcNAc...) (Potential).
486N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
461N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
486N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
57Phosphoserine(CAMK2)HMM predict
104Phosphoserine(MAPK)HMM predict
118Phosphotyrosine(Jak)HMM predict
177N-linkedHMM predict
179Phosphothreonine(MAPK)HMM predict
194Phosphoserine(CK2)HMM predict
194Phosphoserine(CK1)HMM predict
461N-linkedHMM predict
462N-linkedHMM predict
486N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022479
  • Location:chr7 70235724-70816518
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 70235319 70235577 258 277
ER Breast-CancerGSE22609 70226135 70226647 512 9334
ER E2-MCF7GSE14664 70219918 70220051 133 15740
ER Fulvestrant-MCF7GSE14664 70219987 70220077 90 15693
KLF4 hESGSE17917 70234215 70234493 278 1371
hScc1 BcellGSE12603 70235366 70235862 496 111
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70836197 70836471 274 19816
CTCF CD4SISSRdata 70836197 70836471 274 19816
CTCF G2GSE9613 70821191 70821445 254 4800
CTCF G2GSE9613 70836041 70836561 520 19783
hScc1 BcellGSE12603 70836041 70836561 520 19783
hScc1 CdLSGSE12603 70836041 70836561 520 19783
hScc1 G2GSE9613 70836041 70836561 520 19783
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 70736243 70736946 703 0
CTCF G2GSE9613 70238607 70238753 146 0
CTCF G2GSE9613 70332743 70333043 300 0
CTCF G2GSE9613 70371714 70372072 358 0
CTCF G2GSE9613 70481953 70482260 307 0
CTCF G2GSE9613 70483550 70483731 181 0
CTCF G2GSE9613 70488067 70488240 173 0
CTCF G2GSE9613 70493904 70494192 288 0
CTCF G2GSE9613 70511340 70511476 136 0
CTCF G2GSE9613 70523856 70524103 247 0
CTCF G2GSE9613 70604478 70604627 149 0
CTCF G2GSE9613 70614121 70614443 322 0
CTCF G2GSE9613 70675689 70675874 185 0
CTCF G2GSE9613 70695001 70695238 237 0
CTCF G2GSE9613 70726670 70727091 421 0
CTCF G2GSE9613 70813667 70814048 381 0
CTCF G2GSE9613 70815562 70816002 440 0
ER E2-MCF7GSE14664 70297949 70298027 78 0
ER E2-MCF7GSE14664 70355511 70355579 68 0
ER E2-MCF7GSE14664 70661722 70661791 69 0
ER E2-MCF7GSE14664 70669953 70670038 85 0
ER E2-MCF7GSE14664 70804533 70804661 128 0
ER Fulvestrant-MCF7GSE14664 70238531 70238646 115 0
ER Fulvestrant-MCF7GSE14664 70238941 70239020 79 0
ER Fulvestrant-MCF7GSE14664 70239650 70239741 91 0
ER Fulvestrant-MCF7GSE14664 70661722 70661863 141 0
ER Fulvestrant-MCF7GSE14664 70677024 70677101 77 0
ER Fulvestrant-MCF7GSE14664 70678059 70678154 95 0
ER Fulvestrant-MCF7GSE14664 70804523 70804652 129 0
ER MCF7GSE19013 70354736 70355355 619 0
FOXA1 MCF7GSE15244 70274467 70274760 293 0
Fos K562GSE19551 70301830 70302187 357 0
Fos K562GSE19551 70386612 70387209 597 0
FoxA1 MCF7MACSdata 70354626 70354993 367 0
GABP k562GSE8489 70705812 70707193 1381 0
Myc hESGSE17917 70573432 70573754 322 0
Nanog hESGSE18292 70303892 70304182 290 0
Nanog hESGSE18292 70559921 70560337 416 0
Nanog hESGSE18292 70723660 70724182 522 0
Nanog hESGSE18292 70794579 70794812 233 0
Oct1 H2O2-HelaGSE14283 70244416 70244453 37 0
Oct1 H2O2-HelaGSE14283 70607541 70607583 42 0
Oct1 H2O2-HelaGSE14283 70640641 70640674 33 0
Oct1 H2O2-HelaGSE14283 70792412 70792442 30 0
Oct1 H2O2-HelaGSE14283 70795410 70795437 27 0
Oct1 HelaGSE14283 70244416 70244454 38 0
Oct1 HelaGSE14283 70301290 70301320 30 0
Oct1 HelaGSE14283 70391727 70391763 36 0
Oct1 HelaGSE14283 70434179 70434219 40 0
Oct1 HelaGSE14283 70477454 70477484 30 0
Oct1 HelaGSE14283 70479845 70479887 42 0
Oct1 HelaGSE14283 70511676 70511707 31 0
Oct1 HelaGSE14283 70607540 70607591 51 0
Oct1 HelaGSE14283 70640642 70640674 32 0
Oct1 HelaGSE14283 70783926 70783957 31 0
Oct1 HelaGSE14283 70792406 70792443 37 0
Oct4 hESGSE21916 70785622 70786145 523 0
P300 T30-glioblastomaGSE21026 70736189 70737125 936 0
RARA MCF7GSE15244 70705778 70707155 1377 0
RNAII Tamoxifen-MCF7GSE14664 70542599 70542684 85 0
Sox2 hESGSE18292 70416578 70417012 434 0
TAF HelaGSE8489 70371678 70372050 372 0
TAF HelaGSE8489 70666252 70666458 206 0
TAF HelaGSE8489 70747935 70748138 203 0
TFAP2C MCF7GSE21234 70354488 70355114 626 0
TFAP2C MCF7GSE21234 70451679 70452126 447 0
hScc1 BcellGSE12603 70815671 70815931 260 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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