AutismKB 2.0

Annotation Detail for ATRX


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Basic Information Top
Gene Symbol:ATRX ( ATR2,MGC2094,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX )
Gene Full Name: alpha thalassemia/mental retardation syndrome X-linked
Band: Xq21.1
Quick LinksEntrez ID:546; OMIM: 300032; Uniprot ID:ATRX_HUMAN; ENSEMBL ID: ENSG00000085224; HGNC ID: 886
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
34Phosphoserine.
71Phosphoserine.
74Phosphoserine.
87Phosphothreonine.
89Phosphotyrosine.
92Phosphoserine (By similarity).
112Phosphoserine.
594Phosphoserine.
594PxVxL motif.
598Phosphoserine.
634Phosphoserine.
674Phosphothreonine.
675Phosphoserine.
677Phosphoserine.
729Phosphoserine.
731Phosphoserine.
849Phosphoserine.
850Phosphoserine.
871Phosphoserine.
875Phosphoserine.
876Phosphoserine.
967N6-acetyllysine.
1061Phosphoserine (By similarity).
1348Phosphoserine.
1352Phosphoserine.
1527Phosphoserine.
1722DEGH box.
1991Phosphoserine.
1992Phosphoserine.
1996Phosphoserine.
2220Phosphoserine.
Location(AA) Modifications Resource
34Phosphoserine.Swiss-Prot 53.0
34PhosphoserinePhospho.ELM 6.0
84PhosphoserinePhospho.ELM 6.0
87PhosphothreoninePhospho.ELM 6.0
92Phosphoserine (By similarity).Swiss-Prot 53.0
634PhosphoserinePhospho.ELM 6.0
634Phosphoserine.Swiss-Prot 53.0
677PhosphoserinePhospho.ELM 6.0
729PhosphoserinePhospho.ELM 6.0
729Phosphoserine.Swiss-Prot 53.0
731PhosphoserinePhospho.ELM 6.0
731Phosphoserine.Swiss-Prot 53.0
849Phosphoserine.Swiss-Prot 53.0
849PhosphoserinePhospho.ELM 6.0
850Phosphoserine.Swiss-Prot 53.0
850PhosphoserinePhospho.ELM 6.0
889PhosphoserinePhospho.ELM 6.0
1061PhosphoserinePhospho.ELM 6.0
1348PhosphoserinePhospho.ELM 6.0
1348Phosphoserine.Swiss-Prot 53.0
1352PhosphoserinePhospho.ELM 6.0
1352Phosphoserine.Swiss-Prot 53.0
1527Phosphoserine.Swiss-Prot 53.0
1527PhosphoserinePhospho.ELM 6.0
1529PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
29Phosphoserine(CK1)HMM predict
29Phosphoserine(CK2)HMM predict
34Phosphoserine(CDC2)HMM predict
52Phosphoserine(IKK)HMM predict
67Phosphoserine(CDC2)HMM predict
71O-linkedHMM predict
71Phosphoserine(CK1)HMM predict
76Phosphoserine(CK2)HMM predict
79Phosphoserine(CDK)HMM predict
84Phosphoserine(PKG)HMM predict
89Phosphotyrosine(Jak)HMM predict
112Phosphoserine(CK1)HMM predict
112Phosphoserine(CK2)HMM predict
172O-linkedHMM predict
187Phosphotyrosine(INSR)HMM predict
231S-palmitoylHMM predict
232S-palmitoylHMM predict
235S-palmitoylHMM predict
309Phosphotyrosine(Syk)HMM predict
316Phosphoserine(CDC2)HMM predict
334Phosphoserine(IKK)HMM predict
340O-linkedHMM predict
367N-linkedHMM predict
429Phosphothreonine(PKC)HMM predict
465Phosphoserine(PKG)HMM predict
486N-linkedHMM predict
504Phosphotyrosine(EGFR)HMM predict
504Phosphotyrosine(INSR)HMM predict
504Phosphotyrosine(SRC)HMM predict
504PhosphotyrosineHMM predict
508N-linkedHMM predict
509Phosphothreonine(PKC)HMM predict
509Phosphothreonine(CK2)HMM predict
523Phosphoserine(ATM)HMM predict
523Phosphoserine(IKK)HMM predict
564N-linkedHMM predict
570N-linkedHMM predict
598Phosphoserine(CDC2)HMM predict
598Phosphoserine(CDK)HMM predict
615Phosphotyrosine(Syk)HMM predict
656Phosphoserine(CDC2)HMM predict
656Phosphoserine(CDK)HMM predict
662Phosphothreonine(MAPK)HMM predict
662Phosphothreonine(CDK)HMM predict
668Phosphothreonine(PKA)HMM predict
682N-linkedHMM predict
702N-linkedHMM predict
703Phosphoserine(CK2)HMM predict
704Phosphoserine(CK2)HMM predict
750Phosphoserine(CK1)HMM predict
750Phosphoserine(CK2)HMM predict
750Phosphoserine(ATM)HMM predict
784Phosphoserine(PKA)HMM predict
784Phosphoserine(PKG)HMM predict
784Phosphoserine(IKK)HMM predict
810Phosphothreonine(PKA)HMM predict
810Phosphothreonine(PKC)HMM predict
812Phosphoserine(IKK)HMM predict
815Phosphoserine(CK1)HMM predict
817Phosphotyrosine(INSR)HMM predict
817Phosphotyrosine(Syk)HMM predict
819Phosphoserine(CK2)HMM predict
836Phosphothreonine(PKC)HMM predict
837Phosphothreonine(PKC)HMM predict
849Phosphoserine(CK2)HMM predict
849PhosphoserineHMM predict
850Phosphoserine(CK2)HMM predict
876Phosphoserine(ATM)HMM predict
899Phosphothreonine(PKA)HMM predict
974Phosphoserine(CK2)HMM predict
978Phosphoserine(CK1)HMM predict
978Phosphoserine(CK2)HMM predict
989Phosphothreonine(PKC)HMM predict
1037N-linkedHMM predict
1061Phosphoserine(CK1)HMM predict
1061Phosphoserine(CK2)HMM predict
1063Phosphotyrosine(INSR)HMM predict
1073Phosphoserine(IKK)HMM predict
1073PhosphoserineHMM predict
1076Phosphoserine(CK1)HMM predict
1076PhosphoserineHMM predict
1109Phosphoserine(CK1)HMM predict
1110Phosphoserine(CK2)HMM predict
1115Phosphotyrosine(Jak)HMM predict
1123N-linkedHMM predict
1141Phosphoserine(PKC)HMM predict
1151Phosphoserine(CK2)HMM predict
1153Phosphoserine(IKK)HMM predict
1156Phosphoserine(CK2)HMM predict
1156Phosphoserine(ATM)HMM predict
1161Phosphoserine(CK1)HMM predict
1162Phosphoserine(CK1)HMM predict
1172Phosphothreonine(PKC)HMM predict
1173Phosphoserine(CDC2)HMM predict
1202Phosphoserine(CK1)HMM predict
1206Phosphoserine(CK1)HMM predict
1206Phosphoserine(CK2)HMM predict
1220Phosphoserine(CK2)HMM predict
1221Phosphoserine(ATM)HMM predict
1251Phosphoserine(CK1)HMM predict
1283N-linkedHMM predict
1285Phosphoserine(CK2)HMM predict
1286Phosphoserine(CK1)HMM predict
1291Phosphoserine(CK2)HMM predict
1292Phosphoserine(CK2)HMM predict
1292Phosphoserine(ATM)HMM predict
1326Phosphoserine(CK1)HMM predict
1326Phosphoserine(CK2)HMM predict
1326Phosphoserine(ATM)HMM predict
1328Phosphoserine(CK1)HMM predict
1328Phosphoserine(IKK)HMM predict
1358Phosphothreonine(PKC)HMM predict
1375Phosphoserine(PKC)HMM predict
1375Phosphoserine(PKG)HMM predict
1375Phosphoserine(PKB)HMM predict
1379Phosphoserine(CK1)HMM predict
1379Phosphoserine(IKK)HMM predict
1387Phosphoserine(CK2)HMM predict
1394Phosphoserine(CK2)HMM predict
1396Phosphoserine(CK1)HMM predict
1396Phosphoserine(CK2)HMM predict
1396Phosphoserine(IKK)HMM predict
1404Phosphothreonine(PKC)HMM predict
1406Phosphoserine(PKG)HMM predict
1434Phosphoserine(CK1)HMM predict
1435Phosphoserine(CK1)HMM predict
1435Phosphoserine(CK2)HMM predict
1436Phosphoserine(CK1)HMM predict
1438N-linkedHMM predict
1441N-linkedHMM predict
1442Phosphoserine(CK1)HMM predict
1442Phosphoserine(CK2)HMM predict
1442Phosphoserine(CK2)HMM predict
1442PhosphoserineHMM predict
1472Phosphoserine(CDC2)HMM predict
1527Phosphoserine(CDK)HMM predict
1575S-palmitoylHMM predict
1576S-palmitoylHMM predict
1582Phosphothreonine(PKC)HMM predict
1582PhosphothreonineHMM predict
1585Phosphoserine(CDC2)HMM predict
1658Phosphothreonine(PKC)HMM predict
1859N-linkedHMM predict
1860N-linkedHMM predict
1901Phosphotyrosine(INSR)HMM predict
1913Phosphoserine(CK2)HMM predict
1919Phosphoserine(IKK)HMM predict
1921Phosphoserine(CK1)HMM predict
1921Phosphoserine(IKK)HMM predict
1923Phosphoserine(CK2)HMM predict
1927Phosphotyrosine(INSR)HMM predict
1942Phosphoserine(CK1)HMM predict
1942Phosphoserine(CK2)HMM predict
1943Phosphoserine(CK1)HMM predict
1944Phosphoserine(CK1)HMM predict
1944Phosphoserine(CK2)HMM predict
1946Phosphoserine(CK1)HMM predict
1946Phosphoserine(IKK)HMM predict
1990Phosphoserine(CK1)HMM predict
1991O-linkedHMM predict
1992O-linkedHMM predict
1992Phosphoserine(IKK)HMM predict
1993N-linkedHMM predict
1995O-linkedHMM predict
1995O-linkedHMM predict
1996Phosphoserine(CDC2)HMM predict
1996Phosphoserine(CDK)HMM predict
1996Phosphoserine(ATM)HMM predict
2181Phosphothreonine(PKC)HMM predict
2208SulfotyrosineHMM predict
2228Phosphothreonine(PKA)HMM predict
2267Phosphothreonine(CK2)HMM predict
2286Phosphothreonine(PKC)HMM predict
2341Phosphoserine(IKK)HMM predict
2379Phosphoserine(IKK)HMM predict
2391Phosphotyrosine(EGFR)HMM predict
2418Phosphotyrosine(Syk)HMM predict
2447N-linkedHMM predict
2450N-linkedHMM predict
2451Phosphotyrosine(INSR)HMM predict
2487Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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-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-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-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-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-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-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 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-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 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-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
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
1220 Unknown pSILAC miR-30 ATRX down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000085224 n_a n_a n_a "epithelium, squamous cell, lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
27846 EST chrX 76568241 76568819 566 mRNA ATRX chrX 76567335 76847847Sense/Antisense (SA) 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


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