TSC22D3 (TSC22 domain family member 3) - Rat Genome Database
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Gene: TSC22D3 (TSC22 domain family member 3) Homo sapiens
Analyze
Symbol: TSC22D3
Name: TSC22 domain family member 3
RGD ID: 1605734
HGNC Page HGNC
Description: Predicted to have MRF binding activity. Predicted to be involved in negative regulation of skeletal muscle tissue development and negative regulation of transcription by RNA polymerase II. Predicted to localize to cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: delta sleep inducing peptide, immunoreactor; delta sleep-inducing peptide immunoreactor; DIP; DKFZp313A1123; DSIP-immunoreactive leucine zipper protein; DSIP-immunoreactive peptide; DSIPI; GILZ; glucocorticoid-induced leucine zipper protein; hDIP; TSC-22 related protein; TSC-22-like protein; TSC-22-related protein; TSC-22R; TSC22 domain family protein 3; TSC22 domain family, member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100287033  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,713,221 - 107,777,342 (-)EnsemblGRCh38hg38GRCh38
GRCh38X107,713,221 - 107,777,329 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X106,956,451 - 107,019,218 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,843,107 - 106,905,673 (-)NCBINCBI36hg18NCBI36
CeleraX107,427,403 - 107,489,966 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,580,831 - 96,643,067 (-)NCBIHuRef
CHM1_1X106,867,386 - 106,930,124 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-phenoxybenzoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
Aroclor 1254  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
avobenzone  (EXP)
barium chloride  (ISO)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
boron nitride  (EXP)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
corticosterone  (ISO)
cortisol  (EXP,ISO)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
DDE  (EXP,ISO)
DDT  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dieldrin  (EXP)
dimethyl sulfoxide  (EXP)
diuron  (ISO)
doxorubicin  (ISO)
Enterolactone  (EXP)
Erionite  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
geraniol  (EXP)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
isoprenaline  (ISO)
lactacystin  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
levofloxacin  (ISO)
liquiritigenin  (EXP)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
metyrapone  (ISO)
mifepristone  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nevirapine  (ISO)
nickel sulfate  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
oxycodone  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP,ISO)
Ptaquiloside  (ISO)
quercetin  (ISO)
resmethrin  (ISO)
resveratrol  (EXP,ISO)
SCH 23390  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
tin atom  (ISO)
tin(0)  (ISO)
tin(II) chloride (anhydrous)  (ISO)
titanium dioxide  (ISO)
tolylfluanid  (ISO)
topotecan  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (EXP)
triclosan  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vandetanib  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (ISO)
cytosol  (TAS)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8619474   PMID:8982256   PMID:9110174   PMID:11230166   PMID:11313722   PMID:11397794   PMID:11468175   PMID:11688842   PMID:12391160   PMID:12393603   PMID:12477932   PMID:12671681  
PMID:14702039   PMID:15031210   PMID:15489334   PMID:15705665   PMID:16189514   PMID:16196087   PMID:16216878   PMID:16344560   PMID:17356131   PMID:17956870   PMID:18468809   PMID:18499442  
PMID:19260870   PMID:19274049   PMID:19322201   PMID:19380724   PMID:19814803   PMID:19875485   PMID:20018851   PMID:20124407   PMID:20671745   PMID:20947508   PMID:20970683   PMID:21512757  
PMID:21556028   PMID:21726808   PMID:21750716   PMID:21804606   PMID:21906983   PMID:21988832   PMID:22137507   PMID:22539300   PMID:22832853   PMID:23440419   PMID:23494955   PMID:23573276  
PMID:23650723   PMID:23729444   PMID:24215840   PMID:24747114   PMID:24993177   PMID:25168242   PMID:25416956   PMID:25964494   PMID:26186194   PMID:26384220   PMID:26496610   PMID:26612340  
PMID:27173435   PMID:27178044   PMID:27416758   PMID:27716396   PMID:28514442   PMID:28601944   PMID:28784648   PMID:29467389   PMID:29568061   PMID:30723476   PMID:31346158   PMID:31440237  
PMID:31501614   PMID:31572404   PMID:32117233   PMID:32160551   PMID:32296183  


Genomics

Comparative Map Data
TSC22D3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,713,221 - 107,777,342 (-)EnsemblGRCh38hg38GRCh38
GRCh38X107,713,221 - 107,777,329 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X106,956,451 - 107,019,218 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,843,107 - 106,905,673 (-)NCBINCBI36hg18NCBI36
CeleraX107,427,403 - 107,489,966 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,580,831 - 96,643,067 (-)NCBIHuRef
CHM1_1X106,867,386 - 106,930,124 (-)NCBICHM1_1
Tsc22d3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,440,277 - 139,501,271 (-)NCBIGRCm39mm39
GRCm39 EnsemblX139,440,277 - 139,501,408 (-)Ensembl
GRCm38X140,539,528 - 140,600,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,539,528 - 140,600,659 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X137,074,067 - 137,135,061 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X135,885,892 - 135,889,531 (-)NCBImm8
CeleraX123,798,019 - 123,859,465 (-)NCBICelera
Cytogenetic MapXF1NCBI
Tsc22d3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X104,217,898 - 104,277,935 (-)NCBI
Rnor_6.0 EnsemblX111,884,295 - 111,887,906 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X111,884,285 - 111,944,693 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0352,655,031 - 52,715,433 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X128,336,408 - 128,340,027 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X128,409,842 - 128,413,460 (-)NCBI
Celera343,710,349 - 43,713,973 (+)NCBICelera
Cytogenetic MapXq32NCBI
Tsc22d3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554908,177,356 - 8,238,373 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554908,177,356 - 8,238,373 (+)NCBIChiLan1.0ChiLan1.0
TSC22D3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X107,179,077 - 107,242,902 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,179,077 - 107,242,902 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X96,806,179 - 96,870,020 (-)NCBIMhudiblu_PPA_v0panPan3
TSC22D3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,235,489 - 81,298,290 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,235,809 - 81,298,192 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,355,142 - 67,417,939 (-)NCBI
ROS_Cfam_1.0X82,882,231 - 82,945,043 (-)NCBI
UMICH_Zoey_3.1X80,342,439 - 80,405,260 (-)NCBI
UNSW_CanFamBas_1.0X82,054,298 - 82,117,113 (-)NCBI
UU_Cfam_GSD_1.0X81,846,235 - 81,908,809 (-)NCBI
Tsc22d3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2X80,613,791 - 80,680,477 (-)NCBI
SpeTri2.0NW_0049364996,977,924 - 7,044,173 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC22D3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,171,329 - 88,233,964 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,171,325 - 88,233,583 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X102,611,634 - 102,673,219 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSC22D3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,535,798 - 95,606,309 (-)NCBI
Tsc22d3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248038,701,348 - 8,762,194 (+)NCBI

Position Markers
RH18204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,956,501 - 106,956,666UniSTSGRCh37
Build 36X106,843,157 - 106,843,322RGDNCBI36
CeleraX107,427,453 - 107,427,618RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,580,881 - 96,581,046UniSTS
GeneMap99-GB4 RH MapX283.31UniSTS
NCBI RH MapX561.2UniSTS
A002D16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,956,530 - 106,956,695UniSTSGRCh37
Build 36X106,843,186 - 106,843,351RGDNCBI36
CeleraX107,427,482 - 107,427,647RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,580,910 - 96,581,075UniSTS
GeneMap99-GB4 RH MapX283.31UniSTS
NCBI RH MapX561.2UniSTS
WI-18699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X106,956,461 - 106,956,599UniSTSGRCh37
Build 36X106,843,117 - 106,843,255RGDNCBI36
CeleraX107,427,413 - 107,427,551RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,580,841 - 96,580,979UniSTS
GeneMap99-GB4 RH MapX283.24UniSTS
Whitehead-RH MapX267.4UniSTS
NCBI RH MapX556.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)19131573
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)19131573

Predicted Target Of
Summary Value
Count of predictions:9976
Count of miRNA genes:1222
Interacting mature miRNAs:1552
Transcripts:ENST00000315660, ENST00000372382, ENST00000372383, ENST00000372384, ENST00000372390, ENST00000372397, ENST00000480691, ENST00000486554, ENST00000502650, ENST00000502961, ENST00000503515, ENST00000505965, ENST00000506081, ENST00000506724, ENST00000510887, ENST00000514426, ENST00000514897
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 263 55 536 13 274 3 7 27 15 517
Medium 2356 2689 1647 550 1831 390 3713 2133 3342 386 1366 1465 170 1189 2271 1
Low 72 39 75 71 61 72 107 50 114 29 81 111 5 1 4 2
Below cutoff 9 4 3 2 3 1 3 4 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001015881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM047061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ919216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA170687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315660   ⟹   ENSP00000314655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,713,221 - 107,775,985 (-)Ensembl
RefSeq Acc Id: ENST00000372382   ⟹   ENSP00000361457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,714,000 - 107,722,272 (-)Ensembl
RefSeq Acc Id: ENST00000372383   ⟹   ENSP00000361458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,713,224 - 107,775,787 (-)Ensembl
RefSeq Acc Id: ENST00000372384   ⟹   ENSP00000361459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,713,224 - 107,775,988 (-)Ensembl
RefSeq Acc Id: ENST00000372390   ⟹   ENSP00000361466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,713,221 - 107,716,545 (-)Ensembl
RefSeq Acc Id: ENST00000372397   ⟹   ENSP00000361474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,713,221 - 107,717,135 (-)Ensembl
RefSeq Acc Id: ENST00000480691   ⟹   ENSP00000425155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,715,903 - 107,777,055 (-)Ensembl
RefSeq Acc Id: ENST00000486554   ⟹   ENSP00000425414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,714,677 - 107,716,401 (-)Ensembl
RefSeq Acc Id: ENST00000502650   ⟹   ENSP00000424653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,715,923 - 107,776,115 (-)Ensembl
RefSeq Acc Id: ENST00000502961   ⟹   ENSP00000422228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,775,246 - 107,777,329 (-)Ensembl
RefSeq Acc Id: ENST00000503515   ⟹   ENSP00000422060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,715,773 - 107,717,062 (-)Ensembl
RefSeq Acc Id: ENST00000505965   ⟹   ENSP00000425158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,775,167 - 107,777,337 (-)Ensembl
RefSeq Acc Id: ENST00000506081   ⟹   ENSP00000427427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,714,370 - 107,777,067 (-)Ensembl
RefSeq Acc Id: ENST00000506724   ⟹   ENSP00000427075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,775,118 - 107,776,258 (-)Ensembl
RefSeq Acc Id: ENST00000510887   ⟹   ENSP00000422636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,715,912 - 107,776,714 (-)Ensembl
RefSeq Acc Id: ENST00000514426   ⟹   ENSP00000421016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,714,487 - 107,777,078 (-)Ensembl
RefSeq Acc Id: ENST00000514897   ⟹   ENSP00000427199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,715,898 - 107,777,342 (-)Ensembl
RefSeq Acc Id: NM_001015881   ⟹   NP_001015881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,716,508 (-)NCBI
GRCh37X106,956,451 - 107,020,559 (-)NCBI
Build 36X106,843,107 - 106,846,367 (-)NCBI Archive
HuRefX96,580,831 - 96,643,067 (-)ENTREZGENE
CHM1_1X106,867,386 - 106,870,646 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318468   ⟹   NP_001305397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,775,988 (-)NCBI
CHM1_1X106,867,386 - 106,930,124 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318470   ⟹   NP_001305399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,775,988 (-)NCBI
CHM1_1X106,867,386 - 106,930,124 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004089   ⟹   NP_004080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,717,062 (-)NCBI
GRCh37X106,956,451 - 107,020,559 (-)NCBI
Build 36X106,843,107 - 106,846,947 (-)NCBI Archive
HuRefX96,580,831 - 96,643,067 (-)ENTREZGENE
CHM1_1X106,867,386 - 106,871,226 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198057   ⟹   NP_932174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,775,787 (-)NCBI
GRCh37X106,956,451 - 107,020,559 (-)NCBI
Build 36X106,843,107 - 106,905,673 (-)NCBI Archive
HuRefX96,580,831 - 96,643,067 (-)ENTREZGENE
CHM1_1X106,867,386 - 106,929,923 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262099   ⟹   XP_005262156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,777,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262100   ⟹   XP_005262157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,777,067 (-)NCBI
GRCh37X106,956,451 - 107,020,559 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262102   ⟹   XP_005262159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,777,074 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262103   ⟹   XP_005262160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,777,286 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530884   ⟹   XP_011529186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,777,316 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029335   ⟹   XP_016884824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,713,221 - 107,776,049 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001015881 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305399 (Get FASTA)   NCBI Sequence Viewer  
  NP_004080 (Get FASTA)   NCBI Sequence Viewer  
  NP_932174 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262156 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262157 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262159 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262160 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529186 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884824 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD41085 (Get FASTA)   NCBI Sequence Viewer  
  AAD56234 (Get FASTA)   NCBI Sequence Viewer  
  AAG12456 (Get FASTA)   NCBI Sequence Viewer  
  AAH18148 (Get FASTA)   NCBI Sequence Viewer  
  AAH72446 (Get FASTA)   NCBI Sequence Viewer  
  BAB18680 (Get FASTA)   NCBI Sequence Viewer  
  BAC03934 (Get FASTA)   NCBI Sequence Viewer  
  BAG34776 (Get FASTA)   NCBI Sequence Viewer  
  BAG52587 (Get FASTA)   NCBI Sequence Viewer  
  BAG54599 (Get FASTA)   NCBI Sequence Viewer  
  BAG62243 (Get FASTA)   NCBI Sequence Viewer  
  CAA90644 (Get FASTA)   NCBI Sequence Viewer  
  CAB53669 (Get FASTA)   NCBI Sequence Viewer  
  CAG38481 (Get FASTA)   NCBI Sequence Viewer  
  CAI45951 (Get FASTA)   NCBI Sequence Viewer  
  EAX02704 (Get FASTA)   NCBI Sequence Viewer  
  EAX02705 (Get FASTA)   NCBI Sequence Viewer  
  EAX02706 (Get FASTA)   NCBI Sequence Viewer  
  EAX02707 (Get FASTA)   NCBI Sequence Viewer  
  EAX02708 (Get FASTA)   NCBI Sequence Viewer  
  Q99576 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_932174   ⟸   NM_198057
- Peptide Label: isoform 1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004080   ⟸   NM_004089
- Peptide Label: isoform 2
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001015881   ⟸   NM_001015881
- Peptide Label: isoform 3
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot),   Q5JRJ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262156   ⟸   XM_005262099
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262160   ⟸   XM_005262103
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262159   ⟸   XM_005262102
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262157   ⟸   XM_005262100
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529186   ⟸   XM_011530884
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305399   ⟸   NM_001318470
- Peptide Label: isoform 1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305397   ⟸   NM_001318468
- Peptide Label: isoform 1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884824   ⟸   XM_017029335
- Peptide Label: isoform X1
- UniProtKB: Q99576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000424653   ⟸   ENST00000502650
RefSeq Acc Id: ENSP00000422228   ⟸   ENST00000502961
RefSeq Acc Id: ENSP00000422060   ⟸   ENST00000503515
RefSeq Acc Id: ENSP00000361457   ⟸   ENST00000372382
RefSeq Acc Id: ENSP00000361459   ⟸   ENST00000372384
RefSeq Acc Id: ENSP00000361458   ⟸   ENST00000372383
RefSeq Acc Id: ENSP00000361466   ⟸   ENST00000372390
RefSeq Acc Id: ENSP00000361474   ⟸   ENST00000372397
RefSeq Acc Id: ENSP00000425158   ⟸   ENST00000505965
RefSeq Acc Id: ENSP00000427075   ⟸   ENST00000506724
RefSeq Acc Id: ENSP00000427427   ⟸   ENST00000506081
RefSeq Acc Id: ENSP00000425155   ⟸   ENST00000480691
RefSeq Acc Id: ENSP00000422636   ⟸   ENST00000510887
RefSeq Acc Id: ENSP00000425414   ⟸   ENST00000486554
RefSeq Acc Id: ENSP00000314655   ⟸   ENST00000315660
RefSeq Acc Id: ENSP00000421016   ⟸   ENST00000514426
RefSeq Acc Id: ENSP00000427199   ⟸   ENST00000514897

Promoters
RGD ID:6808741
Promoter ID:HG_KWN:67709
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000288274,   ENST00000315660,   ENST00000372390,   OTTHUMT00000057848
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,846,096 - 106,847,592 (-)MPROMDB
RGD ID:6852152
Promoter ID:EP73882
Type:single initiation site
Name:HS_DSIPI
Description:Delta sleep inducing peptide, immunoreactor.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,846,948 - 106,847,008EPD
RGD ID:6809337
Promoter ID:HG_KWN:67711
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_198057,   UC004ENI.1,   UC004ENJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,905,569 - 106,906,069 (-)MPROMDB
RGD ID:6809338
Promoter ID:HG_KWN:67712
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000057849
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,907,089 - 106,907,589 (-)MPROMDB
RGD ID:13627804
Promoter ID:EPDNEW_H29178
Type:initiation region
Name:TSC22D3_2
Description:TSC22 domain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29179  EPDNEW_H29180  EPDNEW_H29181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,716,508 - 107,716,568EPDNEW
RGD ID:13627808
Promoter ID:EPDNEW_H29179
Type:initiation region
Name:TSC22D3_1
Description:TSC22 domain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29178  EPDNEW_H29180  EPDNEW_H29181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,717,062 - 107,717,122EPDNEW
RGD ID:13627810
Promoter ID:EPDNEW_H29180
Type:initiation region
Name:TSC22D3_4
Description:TSC22 domain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29178  EPDNEW_H29179  EPDNEW_H29181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,775,759 - 107,775,819EPDNEW
RGD ID:13627812
Promoter ID:EPDNEW_H29181
Type:initiation region
Name:TSC22D3_3
Description:TSC22 domain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29178  EPDNEW_H29179  EPDNEW_H29180  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,775,940 - 107,776,000EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 copy number gain See cases [RCV000052443] ChrX:107523862..108265579 [GRCh38]
ChrX:106767092..107508809 [GRCh37]
ChrX:106653748..107395465 [NCBI36]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:106791412-107059976)x3 copy number gain See cases [RCV000240159] ChrX:106791412..107059976 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:106344740-107015682)x2 copy number gain See cases [RCV000511210] ChrX:106344740..107015682 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001318468.1(TSC22D3):c.597G>A (p.Ala199=) single nucleotide variant not provided [RCV000890165] ChrX:107714525 [GRCh38]
ChrX:106957755 [GRCh37]
ChrX:Xq22.3
benign
NC_000023.11:g.(?_107628619)_(108696388_?)del deletion not provided [RCV001032756] ChrX:106871849..107939618 [GRCh37]
ChrX:Xq22.3
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3 copy number gain not provided [RCV001259490] ChrX:106479615..107575960 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3051 AgrOrtholog
COSMIC TSC22D3 COSMIC
Ensembl Genes ENSG00000157514 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314655 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361457 UniProtKB/TrEMBL
  ENSP00000361458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361459 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361466 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000361474 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421016 UniProtKB/TrEMBL
  ENSP00000422060 UniProtKB/TrEMBL
  ENSP00000422228 UniProtKB/TrEMBL
  ENSP00000422636 UniProtKB/TrEMBL
  ENSP00000424653 UniProtKB/TrEMBL
  ENSP00000425155 UniProtKB/TrEMBL
  ENSP00000425158 UniProtKB/TrEMBL
  ENSP00000425414 UniProtKB/TrEMBL
  ENSP00000427075 UniProtKB/TrEMBL
  ENSP00000427199 UniProtKB/TrEMBL
  ENSP00000427427 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000315660 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372382 UniProtKB/TrEMBL
  ENST00000372383 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372384 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372390 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000372397 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000480691 UniProtKB/TrEMBL
  ENST00000486554 UniProtKB/TrEMBL
  ENST00000502650 UniProtKB/TrEMBL
  ENST00000502961 UniProtKB/TrEMBL
  ENST00000503515 UniProtKB/TrEMBL
  ENST00000505965 UniProtKB/TrEMBL
  ENST00000506081 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506724 UniProtKB/TrEMBL
  ENST00000510887 UniProtKB/TrEMBL
  ENST00000514426 UniProtKB/TrEMBL
  ENST00000514897 UniProtKB/TrEMBL
GTEx ENSG00000157514 GTEx
HGNC ID HGNC:3051 ENTREZGENE
Human Proteome Map TSC22D3 Human Proteome Map
InterPro TSC-22_Dip_Bun UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1831 UniProtKB/Swiss-Prot
NCBI Gene 1831 ENTREZGENE
OMIM 300506 OMIM
Pfam TSC22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27504 PharmGKB
PROSITE TSC22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6R8Z7_HUMAN UniProtKB/TrEMBL
  D6R9J1_HUMAN UniProtKB/TrEMBL
  D6RAX8_HUMAN UniProtKB/TrEMBL
  D6RBL1_HUMAN UniProtKB/TrEMBL
  D6RCK9_HUMAN UniProtKB/TrEMBL
  D6RD37_HUMAN UniProtKB/TrEMBL
  D6RD92_HUMAN UniProtKB/TrEMBL
  D6RDZ7_HUMAN UniProtKB/TrEMBL
  D6RDZ9_HUMAN UniProtKB/TrEMBL
  E7EWD5_HUMAN UniProtKB/TrEMBL
  Q5JRJ0_HUMAN UniProtKB/TrEMBL
  Q5JRJ2 ENTREZGENE, UniProtKB/TrEMBL
  Q99576 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5H9S3 UniProtKB/Swiss-Prot
  Q5JRI9 UniProtKB/Swiss-Prot
  Q6FIH6 UniProtKB/Swiss-Prot
  Q8NAI1 UniProtKB/Swiss-Prot
  Q8WVB9 UniProtKB/Swiss-Prot
  Q9UBN5 UniProtKB/Swiss-Prot
  Q9UG13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TSC22D3  TSC22 domain family member 3  TSC22D3  TSC22 domain family, member 3  Symbol and/or name change 5135510 APPROVED