IL9R (interleukin 9 receptor) - Rat Genome Database

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Gene: IL9R (interleukin 9 receptor) Homo sapiens
Analyze
Symbol: IL9R
Name: interleukin 9 receptor
RGD ID: 735670
HGNC Page HGNC
Description: Predicted to have interleukin-9 receptor activity. Predicted to be involved in interleukin-9-mediated signaling pathway and regulation of cell population proliferation. Predicted to localize to extracellular space and integral component of plasma membrane. Biomarker of asthma and cystic fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD129; IL-9 receptor; IL-9R; interleukin-9 receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC006548.2   IL9RP1   IL9RP2   IL9RP3   IL9RP4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,997,581 - 156,010,817 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y57,184,151 - 57,199,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,997,631 - 156,013,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37Y59,330,367 - 59,343,488 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,227,361 - 155,240,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,739,640 - 57,752,876 (+)NCBINCBI36hg18NCBI36
Build 36X154,880,440 - 154,893,676 (+)NCBINCBI36hg18NCBI36
Build 34Y57,668,376 - 57,681,613NCBI
CeleraX155,383,904 - 155,397,137 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,710,176 - 143,723,407 (+)NCBIHuRef
CHM1_1X155,138,863 - 155,152,089 (+)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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1376929   PMID:7718508   PMID:8193355   PMID:8666384   PMID:8756628   PMID:9002663   PMID:9535918   PMID:10329852   PMID:10486269   PMID:10642536   PMID:10655549   PMID:10657622  
PMID:11039580   PMID:11160343   PMID:11418623   PMID:11588013   PMID:11868823   PMID:12477932   PMID:15294996   PMID:15591265   PMID:15621723   PMID:17083349   PMID:17192395   PMID:17207965  
PMID:17703412   PMID:17919707   PMID:18339896   PMID:18633131   PMID:18829468   PMID:19139102   PMID:19258923   PMID:19401191   PMID:19596803   PMID:19692168   PMID:19723899   PMID:20424473  
PMID:20452482   PMID:20503287   PMID:20595916   PMID:20673868   PMID:21371865   PMID:21988832   PMID:22638550   PMID:23638223   PMID:24270810   PMID:24908389   PMID:25297818   PMID:25421756  
PMID:26082242   PMID:26186194   PMID:27364124   PMID:27375898   PMID:27543964   PMID:28514442   PMID:30114630  


Genomics

Comparative Map Data
IL9R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,997,581 - 156,010,817 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y57,184,151 - 57,199,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,997,631 - 156,013,017 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37Y59,330,367 - 59,343,488 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,227,361 - 155,240,482 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,739,640 - 57,752,876 (+)NCBINCBI36hg18NCBI36
Build 36X154,880,440 - 154,893,676 (+)NCBINCBI36hg18NCBI36
Build 34Y57,668,376 - 57,681,613NCBI
CeleraX155,383,904 - 155,397,137 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,710,176 - 143,723,407 (+)NCBIHuRef
CHM1_1X155,138,863 - 155,152,089 (+)NCBICHM1_1
Il9r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391132,137,544 - 32,155,283 (-)NCBIGRCm39mm39
GRCm39 Ensembl1132,137,541 - 32,150,279 (-)Ensembl
GRCm381132,187,544 - 32,205,283 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1132,187,541 - 32,200,279 (-)EnsemblGRCm38mm10GRCm38
MGSCv371132,088,997 - 32,100,279 (-)NCBIGRCm37mm9NCBIm37
MGSCv361132,088,997 - 32,100,222 (-)NCBImm8
Celera1134,604,567 - 34,617,169 (-)NCBICelera
Cytogenetic Map11A4NCBI
Il9r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21015,431,706 - 15,444,144 (+)NCBI
Rnor_6.0 Ensembl1015,696,824 - 15,710,423 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01015,697,216 - 15,708,684 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01015,592,041 - 15,642,799 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,678,793 - 15,690,250 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11015,679,841 - 15,691,299 (+)NCBI
Celera1015,099,236 - 15,110,693 (+)NCBICelera
Cytogenetic Map10q12NCBI
Il9r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544217,117,429 - 17,127,451 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544217,115,207 - 17,128,899 (+)NCBIChiLan1.0ChiLan1.0
LOC100991889
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X155,373,324 - 155,386,631 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX155,373,324 - 155,386,631 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09109,268,011 - 109,277,418 (+)NCBIMhudiblu_PPA_v0panPan3
LOC611642
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1640,425,072 - 40,437,917 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0640,768,164 - 40,780,987 (+)NCBI
UMICH_Zoey_3.1640,455,718 - 40,468,536 (+)NCBI
UNSW_CanFamBas_1.0640,416,646 - 40,429,464 (+)NCBI
UU_Cfam_GSD_1.0640,895,831 - 40,908,650 (+)NCBI
Il9r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,731,632 - 112,742,605 (+)NCBI
SpeTri2.0NW_004936501829,236 - 840,130 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL9R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1341,581,253 - 41,590,485 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2340,846,400 - 40,855,571 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL9R
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X130,006,399 - 130,019,191 (+)NCBI
ChlSab1.1 EnsemblX130,006,899 - 130,020,894 (+)Ensembl
Il9r
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624913906,953 - 918,906 (-)NCBI

Position Markers
RH69191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X155,240,010 - 155,240,209UniSTSGRCh37
GRCh37Y59,343,016 - 59,343,215UniSTSGRCh37
GRCh371679,201 - 79,400UniSTSGRCh37
Build 36X154,893,204 - 154,893,403RGDNCBI36
CeleraX155,396,665 - 155,396,864RGD
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map16p13.3UniSTS
HuRefX143,722,935 - 143,723,134UniSTS
ECD15020  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2823
Count of miRNA genes:929
Interacting mature miRNAs:1109
Transcripts:ENST00000244174, ENST00000369423, ENST00000424344, ENST00000489233, ENST00000494962, ENST00000540897
Prediction methods:Miranda, Pita, Rnahybrid
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 adipose tissue appendage entire extraembryonic component
High
Medium 1 42 7
Low 356 102 91 21 809 19 171 52 24 85 163 552 11 6 24
Below cutoff 1775 1893 1188 418 975 271 3067 1294 2260 227 1003 975 150 929 1875 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY071830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L39064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S71404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000244174   ⟹   ENSP00000244174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,997,581 - 156,010,608 (+)Ensembl
RefSeq Acc Id: ENST00000369423   ⟹   ENSP00000358431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,997,706 - 156,010,817 (+)Ensembl
RefSeq Acc Id: ENST00000489233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,997,734 - 156,002,970 (+)Ensembl
RefSeq Acc Id: ENST00000494962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX156,006,114 - 156,008,046 (+)Ensembl
RefSeq Acc Id: NM_002186   ⟹   NP_002177
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,696 - 156,010,817 (+)NCBI
GRCh38Y57,184,216 - 57,197,337 (+)NCBI
GRCh37X155,227,246 - 155,240,482 (+)ENTREZGENE
GRCh37Y59,330,252 - 59,343,488 (+)NCBI
Build 36X154,880,440 - 154,893,676 (+)NCBI Archive
Build 36Y57,739,640 - 57,752,876 (+)NCBI Archive
HuRefX143,710,176 - 143,723,407 (+)ENTREZGENE
CHM1_1X155,138,863 - 155,152,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_176786   ⟹   NP_789743
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,696 - 156,010,817 (+)NCBI
GRCh38Y57,184,216 - 57,197,337 (+)NCBI
Build 36X154,880,440 - 154,893,676 (+)NCBI Archive
Build 36Y57,739,640 - 57,752,876 (+)NCBI Archive
HuRefX143,710,176 - 143,723,407 (+)NCBI
CHM1_1X155,138,863 - 155,152,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531151   ⟹   XP_011529453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,656 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531152   ⟹   XP_011529454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,656 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531154   ⟹   XP_011529456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,688 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531155   ⟹   XP_011529457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,647 - 156,009,936 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531156   ⟹   XP_011529458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,649 - 156,008,225 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531157   ⟹   XP_011529459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,652 - 156,009,936 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545645   ⟹   XP_011543947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,176 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545646   ⟹   XP_011543948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,176 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545649   ⟹   XP_011543951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,208 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545650   ⟹   XP_011543952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,167 - 57,196,456 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545651   ⟹   XP_011543953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,169 - 57,194,745 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545652   ⟹   XP_011543954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,172 - 57,196,456 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029495   ⟹   XP_016884984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,654 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029496   ⟹   XP_016884985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,646 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029497   ⟹   XP_016884986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,688 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029498   ⟹   XP_016884987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,703 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029499   ⟹   XP_016884988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,703 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029500   ⟹   XP_016884989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,643 - 156,008,458 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029501   ⟹   XP_016884990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,653 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029502   ⟹   XP_016884991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,673 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029503   ⟹   XP_016884992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,700 - 156,008,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029504   ⟹   XP_016884993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,631 - 156,008,413 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029505   ⟹   XP_016884994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,997,649 - 156,010,196 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029506   ⟹   XP_016884995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X156,005,534 - 156,013,017 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030044   ⟹   XP_016885533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,174 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030045   ⟹   XP_016885534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,166 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030046   ⟹   XP_016885535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,208 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030047   ⟹   XP_016885536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,223 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030048   ⟹   XP_016885537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,223 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030049   ⟹   XP_016885538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,163 - 57,194,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030050   ⟹   XP_016885539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,173 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030051   ⟹   XP_016885540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,193 - 57,199,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030052   ⟹   XP_016885541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,220 - 57,195,451 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030053   ⟹   XP_016885542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,151 - 57,194,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030054   ⟹   XP_016885543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,184,169 - 57,196,716 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030055   ⟹   XP_016885544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,192,054 - 57,199,537 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002177 (Get FASTA)   NCBI Sequence Viewer  
  NP_789743 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529453 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529454 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529456 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529457 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529458 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529459 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543947 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543948 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543951 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543952 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543953 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543954 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884984 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884985 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884986 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884987 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884988 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884989 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884990 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884991 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884992 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884993 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884994 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884995 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885533 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885534 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885535 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885536 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885537 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885538 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885539 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885540 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885541 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885542 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885543 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885544 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA58679 (Get FASTA)   NCBI Sequence Viewer  
  AAB30844 (Get FASTA)   NCBI Sequence Viewer  
  AAC29513 (Get FASTA)   NCBI Sequence Viewer  
  AAD14081 (Get FASTA)   NCBI Sequence Viewer  
  AAH51337 (Get FASTA)   NCBI Sequence Viewer  
  AAL55435 (Get FASTA)   NCBI Sequence Viewer  
  BAG64273 (Get FASTA)   NCBI Sequence Viewer  
  CAB96817 (Get FASTA)   NCBI Sequence Viewer  
  EAW55884 (Get FASTA)   NCBI Sequence Viewer  
  EAW55885 (Get FASTA)   NCBI Sequence Viewer  
  EAW55886 (Get FASTA)   NCBI Sequence Viewer  
  Q01113 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002177   ⟸   NM_002186
- Peptide Label: isoform 1 precursor
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_789743   ⟸   NM_176786
- Peptide Label: isoform 2
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543952   ⟸   XM_011545650
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011543954   ⟸   XM_011545652
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011543953   ⟸   XM_011545651
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011543947   ⟸   XM_011545645
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543948   ⟸   XM_011545646
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543951   ⟸   XM_011545649
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529457   ⟸   XM_011531155
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011529459   ⟸   XM_011531157
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011529458   ⟸   XM_011531156
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011529453   ⟸   XM_011531151
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529454   ⟸   XM_011531152
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529456   ⟸   XM_011531154
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885542   ⟸   XM_017030053
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016885538   ⟸   XM_017030049
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885534   ⟸   XM_017030045
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885543   ⟸   XM_017030054
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885539   ⟸   XM_017030050
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016885533   ⟸   XM_017030044
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885540   ⟸   XM_017030051
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016885535   ⟸   XM_017030046
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885541   ⟸   XM_017030052
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016885536   ⟸   XM_017030047
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885537   ⟸   XM_017030048
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885544   ⟸   XM_017030055
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016884993   ⟸   XM_017029504
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016884989   ⟸   XM_017029500
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884985   ⟸   XM_017029496
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884994   ⟸   XM_017029505
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016884990   ⟸   XM_017029501
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884984   ⟸   XM_017029495
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884991   ⟸   XM_017029502
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016884986   ⟸   XM_017029497
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884992   ⟸   XM_017029503
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884987   ⟸   XM_017029498
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884988   ⟸   XM_017029499
- Peptide Label: isoform X5
- UniProtKB: Q01113 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884995   ⟸   XM_017029506
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: ENSP00000244174   ⟸   ENST00000244174
RefSeq Acc Id: ENSP00000358431   ⟸   ENST00000369423
Protein Domains
Fibronectin type-III


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
NM_002186.2(IL9R):c.384G>A (p.Gly128=) single nucleotide variant Malignant melanoma [RCV000073138] ChrY:57190326 [GRCh38]
ChrX:156003806 [GRCh38]
ChrX:155233471 [GRCh37]
ChrY:59336477 [GRCh37]
ChrX:154886665 [NCBI36]
ChrX:Xq28
ChrY:Yq12
not provided
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:156001591-156022206)x1 copy number loss See cases [RCV000050305] ChrX:156001591..156022206 [GRCh38]
ChrX:155231256..155251871 [GRCh37]
ChrX:154884450..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:156001591-156022206)x0 copy number loss See cases [RCV000050306] ChrX:156001591..156022206 [GRCh38]
ChrX:155231256..155251871 [GRCh37]
ChrX:154884450..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:155980375-156010307)x1 copy number loss See cases [RCV000050916] ChrX:155980375..156010307 [GRCh38]
ChrX:155210040..155239972 [GRCh37]
ChrX:154863234..154893166 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:155999253-156010898)x3 copy number gain See cases [RCV000135010] ChrX:155999253..156010898 [GRCh38]
ChrX:155228918..155240563 [GRCh37]
ChrX:154882112..154893757 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Yq12(chrY:57185773-57197418)x3 copy number gain See cases [RCV000135011] ChrY:57185773..57197418 [GRCh38]
ChrY:59331924..59343569 [GRCh37]
ChrY:57741312..57752957 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:155348480-156016920)x3 copy number gain See cases [RCV000135266] ChrX:155348480..156016920 [GRCh38]
ChrX:154577793..155246585 [GRCh37]
ChrX:154230987..154899779 [NCBI36]
ChrX:Xq28
likely benign
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 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:155971728-156004327)x1 copy number loss See cases [RCV000134605] ChrX:155971728..156004327 [GRCh38]
ChrX:155201393..155233992 [GRCh37]
ChrX:154854587..154887186 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Yq12(chrY:57158248-57190847)x1 copy number loss See cases [RCV000134606] ChrY:57158248..57190847 [GRCh38]
ChrY:59304399..59336998 [GRCh37]
ChrY:57713787..57746386 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Yq12(chrY:56890578-57212647)x3 copy number gain See cases [RCV000134654] ChrY:56890578..57212647 [GRCh38]
ChrY:59036725..59358798 [GRCh37]
ChrY:57446113..57768186 [NCBI36]
ChrY:Yq12
benign
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 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:156006941-156020513)x4 copy number gain See cases [RCV000134526] ChrX:156006941..156020513 [GRCh38]
ChrX:155236606..155250178 [GRCh37]
ChrX:154889800..154903372 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:156006941-156026127)x3 copy number gain See cases [RCV000134530] ChrX:156006941..156026127 [GRCh38]
ChrX:155236606..155255792 [GRCh37]
ChrX:154889800..154908986 [NCBI36]
ChrX:Xq28
benign|likely benign|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:156006941-156026127)x1 copy number loss See cases [RCV000134531] ChrX:156006941..156026127 [GRCh38]
ChrX:155236606..155255792 [GRCh37]
ChrX:Xq28
benign
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 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 Xq28(chrX:155980375-156022206)x1 copy number loss See cases [RCV000053509] ChrX:155980375..156022206 [GRCh38]
ChrX:155210040..155251871 [GRCh37]
ChrX:154863234..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:155998122-156013167)x1 copy number loss See cases [RCV000053513] ChrX:155998122..156013167 [GRCh38]
ChrX:155227787..155242832 [GRCh37]
ChrX:154880981..154896026 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000053517] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12
benign|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:155717169-156022206)x3 copy number gain See cases [RCV000054349] ChrX:155717169..156022206 [GRCh38]
ChrX:154946830..155251871 [GRCh37]
ChrX:154600024..154905065 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155980375-156013167)x1 copy number loss See cases [RCV000133596] ChrX:155980375..156013167 [GRCh38]
ChrX:155210040..155242832 [GRCh37]
ChrX:154863234..154896026 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:155951870-156022206)x1 copy number loss See cases [RCV000133670] ChrX:155951870..156022206 [GRCh38]
ChrX:155181535..155251871 [GRCh37]
ChrX:154834729..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:155980375-156013167)x0 copy number loss See cases [RCV000051210] ChrX:155980375..156013167 [GRCh38]
ChrX:155210040..155242832 [GRCh37]
ChrX:154863234..154896026 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:155998122-156022206)x0 copy number loss See cases [RCV000051224] ChrX:155998122..156022206 [GRCh38]
ChrX:155227787..155251871 [GRCh37]
ChrX:154880981..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:155998122-156022206)x1 copy number loss See cases [RCV000051225] ChrX:155998122..156022206 [GRCh38]
ChrX:155227787..155251871 [GRCh37]
ChrX:154880981..154905065 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12
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 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: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-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-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 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:155889104-156020513)x3 copy number gain See cases [RCV000140536] ChrX:155889104..156020513 [GRCh38]
ChrX:155118767..155250178 [GRCh37]
ChrX:154771961..154903372 [NCBI36]
ChrX:Xq28
benign
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 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 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 Xq28(chrX:155775219-156003242)x1 copy number loss See cases [RCV000141630] ChrX:155775219..156003242 [GRCh38]
ChrX:155004881..155232907 [GRCh37]
ChrX:154658075..154886101 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12
pathogenic
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 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 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 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 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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 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 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:155745034-156003229)x0 copy number loss See cases [RCV000142823] ChrX:155745034..156003229 [GRCh38]
ChrX:154974696..155232894 [GRCh37]
ChrX:154627890..154886088 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:155532532-156003229)x0 copy number loss See cases [RCV000143003] ChrX:155532532..156003229 [GRCh38]
ChrX:154762193..155232894 [GRCh37]
ChrX:154415387..154886088 [NCBI36]
ChrX:Xq28
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 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 Xp11.22-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 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 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: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: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 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 Yq12(chrY:56898727-57190586)x0 copy number loss See cases [RCV000143422] ChrY:56898727..57190586 [GRCh38]
ChrY:59044874..59336737 [GRCh37]
ChrY:57454262..57746125 [NCBI36]
ChrY:Yq12
likely benign
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000148064] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq28(chrX:156001591-156022206)x1 copy number loss See cases [RCV000148261] ChrX:156001591..156022206 [GRCh38]
ChrX:155231256..155251871 [GRCh37]
ChrX:154884450..154905065 [NCBI36]
ChrX:Xq28
benign
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 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Yq12(chrY:56992525-57208726)x0 copy number loss See cases [RCV000136553] ChrY:56992525..57208726 [GRCh38]
ChrY:59138674..59354877 [GRCh37]
ChrY:57548062..57764265 [NCBI36]
ChrY:Yq12
benign
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: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 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 Xq28(chrX:155699559-156022206)x1 copy number loss See cases [RCV000136868] ChrX:155699559..156022206 [GRCh38]
ChrX:154929220..155251871 [GRCh37]
ChrX:154582414..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:155434676-156022206)x3 copy number gain See cases [RCV000137037] ChrX:155434676..156022206 [GRCh38]
ChrX:154664337..155251871 [GRCh37]
ChrX:154317531..154905065 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Yq11.23-12(chrY:26389936-57208726)x0 copy number loss See cases [RCV000137091] ChrY:26389936..57208726 [GRCh38]
ChrY:28536083..59354877 [GRCh37]
ChrY:26945471..57764265 [NCBI36]
ChrY:Yq11.23-12
benign
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 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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: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: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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
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: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 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Yq12(chrY:56931525-57189762)x0 copy number loss See cases [RCV000137729] ChrY:56931525..57189762 [GRCh38]
ChrY:59077673..59335913 [GRCh37]
ChrY:57487061..57745301 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq28(chrX:155844642-156003242)x0 copy number loss See cases [RCV000137780] ChrX:155844642..156003242 [GRCh38]
ChrX:155074305..155232907 [GRCh37]
ChrX:154727499..154886101 [NCBI36]
ChrX:Xq28
likely benign
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 Xq28(chrX:155800088-156003242)x1 copy number loss See cases [RCV000137967] ChrX:155800088..156003242 [GRCh38]
ChrX:155029751..155232907 [GRCh37]
ChrX:154682945..154886101 [NCBI36]
ChrX:Xq28
benign
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 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:10701-156003242)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 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 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: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 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 Xq28(chrX:155348480-156003242)x3 copy number gain See cases [RCV000138670] ChrX:155348480..156003242 [GRCh38]
ChrX:154577793..155232907 [GRCh37]
ChrX:154230987..154886101 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12
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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_002186.3(IL9R):c.254+10G>A single nucleotide variant not provided [RCV000967618] ChrX:156003570 [GRCh38]
ChrY:57190090 [GRCh38]
ChrX:155233235 [GRCh37]
ChrY:59336241 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign
NM_002186.3(IL9R):c.991G>A (p.Gly331Arg) single nucleotide variant not provided [RCV000948172] ChrX:156009834 [GRCh38]
ChrY:57196354 [GRCh38]
ChrX:155239499 [GRCh37]
ChrY:59342505 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign
NM_002186.3(IL9R):c.1094G>A (p.Arg365His) single nucleotide variant not provided [RCV000950306] ChrX:156009937 [GRCh38]
ChrY:57196457 [GRCh38]
ChrX:155239602 [GRCh37]
ChrY:59342608 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign
NM_002186.3(IL9R):c.573C>T (p.Ala191=) single nucleotide variant not provided [RCV000965532] ChrX:156004559 [GRCh38]
ChrY:57191079 [GRCh38]
ChrX:155234224 [GRCh37]
ChrY:59337230 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6030 AgrOrtholog
COSMIC IL9R COSMIC
Ensembl Genes ENSG00000124334 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000244174 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358431 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000244174 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369423 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124334 GTEx
HGNC ID HGNC:6030 ENTREZGENE
Human Proteome Map IL9R Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hempt_rcpt_S_F1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3581 UniProtKB/Swiss-Prot
NCBI Gene 3581 ENTREZGENE
OMIM 300007 OMIM
PharmGKB PA29846 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_S_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R039_HUMAN UniProtKB/TrEMBL
  I6L9D8_HUMAN UniProtKB/TrEMBL
  IL9R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9ZVT0 UniProtKB/Swiss-Prot
  Q14634 UniProtKB/Swiss-Prot
  Q8WWU1 UniProtKB/Swiss-Prot
  Q96TF0 UniProtKB/Swiss-Prot