CITED1 (Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CITED1 (Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1) Homo sapiens
Analyze
Symbol: CITED1
Name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
RGD ID: 1344879
HGNC Page HGNC
Description: Exhibits several functions, including LBD domain binding activity; co-SMAD binding activity; and protein C-terminus binding activity. Involved in several processes, including regulation of transcription, DNA-templated; response to estrogen; and transmembrane receptor protein serine/threonine kinase signaling pathway. Localizes to cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cbp/p300-interacting transactivator 1; Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1; Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1; melanocyte-specific gene 1; melanocyte-specific protein 1; MSG1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX72,301,638 - 72,307,187 (-)EnsemblGRCh38hg38GRCh38
GRCh38X72,301,646 - 72,307,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X71,521,496 - 71,527,007 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,438,225 - 71,443,515 (-)NCBINCBI36hg18NCBI36
Build 34X71,304,522 - 71,309,811NCBI
CeleraX71,864,707 - 71,870,256 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX65,276,211 - 65,281,593 (-)NCBIHuRef
CHM1_1X71,414,498 - 71,420,047 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
brain development  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (ISO,ISS)
embryonic axis specification  (IEA)
kidney development  (ISO)
labyrinthine layer development  (IEA,ISO)
melanin biosynthetic process  (ISS)
melanocyte differentiation  (IBA,IEP,ISO)
mesenchymal to epithelial transition  (TAS)
metanephros development  (TAS)
morphogenesis of an epithelium  (ISO)
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis  (IEA)
negative regulation of neuron apoptotic process  (IDA)
negative regulation of osteoblast differentiation  (ISS)
negative regulation of transcription, DNA-templated  (IDA,ISS)
negative regulation of Wnt signaling pathway  (TAS)
nucleocytoplasmic transport  (IDA)
pigmentation  (IEP,ISO)
placenta development  (ISS)
positive regulation of gene expression  (ISS)
positive regulation of mesenchymal stem cell proliferation  (TAS)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of transcription, DNA-templated  (IDA)
positive regulation of transforming growth factor beta receptor signaling pathway  (TAS)
regulation of apoptotic process  (IDA)
regulation of transcription by RNA polymerase II  (TAS)
regulation of transcription, DNA-templated  (IEA)
response to cAMP  (ISS)
response to cytokine  (ISS)
response to estrogen  (IDA,TAS)
response to insulin  (ISS)
response to interferon-gamma  (ISS)
response to interleukin-1  (ISS)
response to interleukin-11  (ISS)
response to interleukin-2  (ISS)
response to interleukin-4  (ISS)
response to interleukin-6  (ISS)
response to interleukin-9  (ISS)
response to lipopolysaccharide  (ISS)
response to parathyroid hormone  (ISS)
response to transforming growth factor beta  (IDA)
SMAD protein signal transduction  (IDA)
spongiotrophoblast layer development  (IEA,ISO)
transforming growth factor beta receptor signaling pathway  (IDA)
vasculogenesis  (IEA,ISO)

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8901575   PMID:9434189   PMID:9683535   PMID:9707553   PMID:9721210   PMID:10327051   PMID:10644012   PMID:10722728   PMID:11310794   PMID:11581164   PMID:11744733   PMID:12477932  
PMID:15342556   PMID:15489334   PMID:15843474   PMID:16864582   PMID:17336183   PMID:17710162   PMID:17938205   PMID:21172805   PMID:21449767   PMID:21873635   PMID:22703800   PMID:22889411  
PMID:23746764   PMID:23935526   PMID:24481423   PMID:32814053  


Genomics

Comparative Map Data
CITED1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX72,301,638 - 72,307,187 (-)EnsemblGRCh38hg38GRCh38
GRCh38X72,301,646 - 72,307,157 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X71,521,496 - 71,527,007 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,438,225 - 71,443,515 (-)NCBINCBI36hg18NCBI36
Build 34X71,304,522 - 71,309,811NCBI
CeleraX71,864,707 - 71,870,256 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX65,276,211 - 65,281,593 (-)NCBIHuRef
CHM1_1X71,414,498 - 71,420,047 (-)NCBICHM1_1
Cited1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X101,290,984 - 101,295,787 (-)NCBIGRCm39mm39
GRCm39 EnsemblX101,290,987 - 101,295,787 (-)Ensembl
GRCm38X102,247,378 - 102,252,181 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX102,247,381 - 102,252,181 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X99,442,775 - 99,447,108 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X98,450,155 - 98,454,488 (-)NCBImm8
CeleraX89,158,523 - 89,162,856 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX45.25NCBI
Cited1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X67,350,376 - 67,355,072 (-)NCBI
Rnor_6.0 EnsemblX72,128,994 - 72,133,692 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X72,128,996 - 72,133,692 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X72,970,882 - 72,975,577 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X90,301,067 - 90,305,762 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X90,374,502 - 90,379,195 (-)NCBI
CeleraX67,703,821 - 67,708,586 (-)NCBICelera
Cytogenetic MapXq22NCBI
Cited1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547511,722,514 - 11,725,067 (-)NCBIChiLan1.0ChiLan1.0
CITED1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X71,621,785 - 71,627,300 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX71,621,785 - 71,625,702 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X61,537,949 - 61,543,545 (-)NCBIMhudiblu_PPA_v0panPan3
CITED1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X56,327,104 - 56,332,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX56,327,182 - 56,332,047 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX47,153,226 - 47,158,855 (-)NCBI
ROS_Cfam_1.0X57,381,392 - 57,387,023 (-)NCBI
UMICH_Zoey_3.1X55,289,501 - 55,295,129 (-)NCBI
UNSW_CanFamBas_1.0X56,693,279 - 56,698,903 (-)NCBI
UU_Cfam_GSD_1.0X56,542,007 - 56,547,638 (-)NCBI
Cited1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X45,586,788 - 45,592,476 (+)NCBI
SpeTri2.0NW_0049367621,387,354 - 1,392,955 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CITED1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX58,179,087 - 58,184,499 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X58,179,084 - 58,184,778 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X65,888,887 - 65,894,581 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CITED1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X62,126,383 - 62,131,919 (-)NCBI
ChlSab1.1 EnsemblX62,126,320 - 62,130,220 (-)Ensembl
Vero_WHO_p1.0NW_0236660653,975,650 - 3,981,184 (-)NCBI
Cited1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249032,596,049 - 2,601,315 (-)NCBI

Position Markers
SGC35157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,521,528 - 71,521,656UniSTSGRCh37
Build 36X71,438,253 - 71,438,381RGDNCBI36
CeleraX71,864,747 - 71,864,875RGD
Cytogenetic MapXq13.1UniSTS
HuRefX65,276,251 - 65,276,379UniSTS
GeneMap99-GB4 RH MapX243.48UniSTS
Whitehead-RH MapX189.1UniSTS
NCBI RH MapX441.0UniSTS
RH35925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,521,549 - 71,521,686UniSTSGRCh37
Build 36X71,438,274 - 71,438,411RGDNCBI36
CeleraX71,864,768 - 71,864,905RGD
Cytogenetic MapXq13.1UniSTS
HuRefX65,276,272 - 65,276,409UniSTS
GeneMap99-GB4 RH MapX239.21UniSTS
CITED1_3083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,521,437 - 71,522,026UniSTSGRCh37
Build 36X71,438,162 - 71,438,751RGDNCBI36
CeleraX71,864,656 - 71,865,245RGD
HuRefX65,276,160 - 65,276,749UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2070
Count of miRNA genes:741
Interacting mature miRNAs:881
Transcripts:ENST00000246139, ENST00000373619, ENST00000417400, ENST00000427412, ENST00000429794, ENST00000431381, ENST00000445983, ENST00000450875, ENST00000453707, ENST00000454225
Prediction methods:Microtar, Miranda, Pita, 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
High 3 3
Medium 14 406 4 3 4 71 6 565 9 450 131 8 4
Low 1505 531 742 96 214 34 1623 827 2968 143 663 912 69 1 719 922
Below cutoff 913 2180 452 398 1100 303 2543 1228 196 248 328 547 104 474 1755 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000246139   ⟹   ENSP00000246139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,650 - 72,306,987 (-)Ensembl
RefSeq Acc Id: ENST00000373619   ⟹   ENSP00000362721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,647 - 72,307,187 (-)Ensembl
RefSeq Acc Id: ENST00000417400   ⟹   ENSP00000414781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,883 - 72,305,897 (-)Ensembl
RefSeq Acc Id: ENST00000427412   ⟹   ENSP00000391407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,968 - 72,305,565 (-)Ensembl
RefSeq Acc Id: ENST00000429794   ⟹   ENSP00000407496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,648 - 72,302,868 (-)Ensembl
RefSeq Acc Id: ENST00000431381   ⟹   ENSP00000388548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,640 - 72,305,914 (-)Ensembl
RefSeq Acc Id: ENST00000445983   ⟹   ENSP00000403274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,640 - 72,305,914 (-)Ensembl
RefSeq Acc Id: ENST00000450875   ⟹   ENSP00000405765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,302,054 - 72,305,892 (-)Ensembl
RefSeq Acc Id: ENST00000453707   ⟹   ENSP00000401764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,638 - 72,307,150 (-)Ensembl
RefSeq Acc Id: ENST00000454225   ⟹   ENSP00000412769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,302,206 - 72,306,907 (-)Ensembl
RefSeq Acc Id: ENST00000651998   ⟹   ENSP00000499148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,301,646 - 72,305,914 (-)Ensembl
RefSeq Acc Id: NM_001144885   ⟹   NP_001138357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,301,646 - 72,305,914 (-)NCBI
GRCh37X71,521,488 - 71,527,037 (-)ENTREZGENE
HuRefX65,276,211 - 65,281,593 (-)ENTREZGENE
CHM1_1X71,414,498 - 71,418,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001144886   ⟹   NP_001138358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,301,646 - 72,307,157 (-)NCBI
GRCh37X71,521,488 - 71,527,037 (-)NCBI
HuRefX65,276,211 - 65,281,593 (-)ENTREZGENE
CHM1_1X71,414,498 - 71,420,047 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001144887   ⟹   NP_001138359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,301,646 - 72,305,914 (-)NCBI
GRCh37X71,521,488 - 71,527,037 (-)NCBI
HuRefX65,276,211 - 65,281,593 (-)ENTREZGENE
CHM1_1X71,414,498 - 71,418,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004143   ⟹   NP_004134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,301,646 - 72,306,870 (-)NCBI
GRCh37X71,521,488 - 71,527,037 (-)ENTREZGENE
GRCh37X71,521,488 - 71,527,037 (-)NCBI
Build 36X71,438,225 - 71,443,515 (-)NCBI Archive
HuRefX65,276,211 - 65,281,593 (-)ENTREZGENE
CHM1_1X71,414,498 - 71,419,847 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530958   ⟹   XP_011529260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,301,646 - 72,305,912 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001138358   ⟸   NM_001144886
- Peptide Label: isoform 1
- UniProtKB: Q99966 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004134   ⟸   NM_004143
- Peptide Label: isoform 1
- UniProtKB: Q99966 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138359   ⟸   NM_001144887
- Peptide Label: isoform 1
- UniProtKB: Q99966 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138357   ⟸   NM_001144885
- Peptide Label: isoform 2
- UniProtKB: Q99966 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529260   ⟸   XM_011530958
- Peptide Label: isoform X1
- UniProtKB: Q99966 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000405765   ⟸   ENST00000450875
RefSeq Acc Id: ENSP00000362721   ⟸   ENST00000373619
RefSeq Acc Id: ENSP00000391407   ⟸   ENST00000427412
RefSeq Acc Id: ENSP00000401764   ⟸   ENST00000453707
RefSeq Acc Id: ENSP00000412769   ⟸   ENST00000454225
RefSeq Acc Id: ENSP00000407496   ⟸   ENST00000429794
RefSeq Acc Id: ENSP00000499148   ⟸   ENST00000651998
RefSeq Acc Id: ENSP00000246139   ⟸   ENST00000246139
RefSeq Acc Id: ENSP00000414781   ⟸   ENST00000417400
RefSeq Acc Id: ENSP00000388548   ⟸   ENST00000431381
RefSeq Acc Id: ENSP00000403274   ⟸   ENST00000445983

Promoters
RGD ID:6808575
Promoter ID:HG_KWN:67237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   NB4
Transcripts:NM_001144886,   NM_004143,   OTTHUMT00000057182,   OTTHUMT00000057183
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,443,404 - 71,443,904 (-)MPROMDB
RGD ID:6851534
Promoter ID:EP73568
Type:single initiation site
Name:HS_CITED1
Description:Cbp/p300-interacting transactivator, with Glu/Asp-richcarboxy-terminal domain, 1.
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 36X71,443,732 - 71,443,792EPD
RGD ID:13627448
Promoter ID:EPDNEW_H28999
Type:multiple initiation site
Name:CITED1_2
Description:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminaldomain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29000  EPDNEW_H29001  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,305,914 - 72,305,974EPDNEW
RGD ID:13627450
Promoter ID:EPDNEW_H29000
Type:initiation region
Name:CITED1_3
Description:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminaldomain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28999  EPDNEW_H29001  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,306,971 - 72,307,031EPDNEW
RGD ID:13627452
Promoter ID:EPDNEW_H29001
Type:initiation region
Name:CITED1_1
Description:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminaldomain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28999  EPDNEW_H29000  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,307,157 - 72,307,217EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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: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 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 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 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 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
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: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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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:10701-155978689)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)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 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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 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 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 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 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-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 Xq13.1(chrX:71810439-72381499)x3 copy number gain See cases [RCV000138759] ChrX:71810439..72381499 [GRCh38]
ChrX:71030289..71530833 [GRCh37]
ChrX:70947014..71518074 [NCBI36]
ChrX:Xq13.1
likely benign
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 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 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 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 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 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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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
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
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 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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: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 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 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 Xp22.2-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:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
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 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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
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 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..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 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: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 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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
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
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001144887.2(CITED1):c.486G>A (p.Val162=) single nucleotide variant not provided [RCV000904952] ChrX:72301819 [GRCh38]
ChrX:71521669 [GRCh37]
ChrX:Xq13.1
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely 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
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 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 Xq13.1(chrX:71401787-71617388)x2 copy number gain not provided [RCV001249396] ChrX:71401787..71617388 [GRCh37]
ChrX:Xq13.1
not provided
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 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:1986 AgrOrtholog
COSMIC CITED1 COSMIC
Ensembl Genes ENSG00000125931 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000246139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362721 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388548 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391407 UniProtKB/TrEMBL
  ENSP00000401764 UniProtKB/Swiss-Prot
  ENSP00000403274 UniProtKB/Swiss-Prot
  ENSP00000405765 UniProtKB/TrEMBL
  ENSP00000407496 UniProtKB/TrEMBL
  ENSP00000412769 UniProtKB/TrEMBL
  ENSP00000414781 UniProtKB/TrEMBL
  ENSP00000499148 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000246139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373619 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417400 UniProtKB/TrEMBL
  ENST00000427412 UniProtKB/TrEMBL
  ENST00000429794 UniProtKB/TrEMBL
  ENST00000431381 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000445983 UniProtKB/Swiss-Prot
  ENST00000450875 UniProtKB/TrEMBL
  ENST00000453707 UniProtKB/Swiss-Prot
  ENST00000454225 UniProtKB/TrEMBL
  ENST00000651998 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000125931 GTEx
HGNC ID HGNC:1986 ENTREZGENE
Human Proteome Map CITED1 Human Proteome Map
InterPro CITED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4435 UniProtKB/Swiss-Prot
NCBI Gene 4435 ENTREZGENE
OMIM 300149 OMIM
PANTHER PTHR17045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CITED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26523 PharmGKB
UniProt A0A024R4H9_HUMAN UniProtKB/TrEMBL
  C9J1P6_HUMAN UniProtKB/TrEMBL
  C9J300_HUMAN UniProtKB/TrEMBL
  C9J7P8_HUMAN UniProtKB/TrEMBL
  C9JRD8_HUMAN UniProtKB/TrEMBL
  CITE1_HUMAN UniProtKB/Swiss-Prot
  H7C2S6_HUMAN UniProtKB/TrEMBL
  Q99966 ENTREZGENE
UniProt Secondary B5BU50 UniProtKB/Swiss-Prot
  B5BUI2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 CITED1  Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1  CITED1  Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1  Symbol and/or name change 5135510 APPROVED
2015-11-10 CITED1  Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1  CITED1  Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1  Symbol and/or name change 5135510 APPROVED