AutismKB 2.0

Annotation Detail for SHOX


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Basic Information Top
Gene Symbol:SHOX ( GCFX,PHOG,SHOXY,SS )
Gene Full Name: short stature homeobox
Band: Xp22.33 and Yp11.32
Quick LinksEntrez ID:6473; OMIM: 312865,400020; Uniprot ID:SHOX_HUMAN; ENSEMBL ID: ENSG00000185960; HGNC ID: 10853
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
249SH3-binding (Potential).
287OAR.
Location(AA) Modifications Resource
Location(AA) Modification Resource
95Phosphotyrosine(EGFR)HMM predict
106Phosphoserine(CK2)HMM predict
106Phosphoserine(CK1)HMM predict
120Phosphoserine(PKG)HMM predict
123N-linkedHMM predict
141Phosphotyrosine(EGFR)HMM predict
151Phosphoserine(ATM)HMM predict
271Phosphoserine(CK1)HMM predict
271Phosphoserine(IKK)HMM predict
273N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000451
  • Location:chrX 505078-527557
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 498764 499016 252 6189
CTCF G2GSE9613 499709 500135 426 5157
CTCF G2GSE9613 500695 501089 394 4187
CTCF G2GSE9613 504440 505335 895 191
hScc1 BcellGSE12603 498634 498991 357 6266
hScc1 BcellGSE12603 499783 500198 415 5088
hScc1 G2GSE9613 491042 491237 195 13939
hScc1 G2GSE9613 498851 499016 165 6145
hScc1 G2GSE9613 499709 500048 339 5200
hScc1 G2GSE9613 501054 501378 324 3863
hScc1 G2GSE9613 504551 505335 784 136
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 510305 510682 377 0
CTCF G2GSE9613 510305 510851 546 0
CTCF G2GSE9613 511560 511914 354 0
CTCF G2GSE9613 515355 515741 386 0
CTCF G2GSE9613 522694 523165 471 0
CTCF G2GSE9613 524146 524350 204 0
CTCF G2GSE9613 525020 525595 575 0
Oct1 HelaGSE14283 513177 513220 43 0
hScc1 BcellGSE12603 515355 515741 386 0
hScc1 BcellGSE12603 525020 525595 575 0
hScc1 G2GSE9613 510305 510873 568 0
hScc1 G2GSE9613 511436 511951 515 0
hScc1 G2GSE9613 515436 515936 500 0
hScc1 G2GSE9613 516510 516779 269 0
hScc1 G2GSE9613 522694 523165 471 0
hScc1 G2GSE9613 523962 524391 429 0
hScc1 G2GSE9613 524921 525595 674 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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