SPRY3 (sprouty RTK signaling antagonist 3) - Rat Genome Database

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Gene: SPRY3 (sprouty RTK signaling antagonist 3) Homo sapiens
Analyze
Symbol: SPRY3
Name: sprouty RTK signaling antagonist 3
RGD ID: 1349769
HGNC Page HGNC
Description: Involved in negative regulation of MAPK cascade. Predicted to localize to cytosol; PARTICIPATES IN Jak-Stat signaling pathway; INTERACTS WITH aflatoxin B1; nickel sulfate; sodium arsenite.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: antagonist of FGF signaling; HSPRY3; sprouty homolog 3; sprouty3; spry-3
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 EnsemblX155,767,812 - 155,782,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX155,612,572 - 155,782,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y56,954,255 - 56,968,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,612,586 - 155,782,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,842,247 - 155,012,121 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y59,100,403 - 59,115,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X154,650,645 - 154,665,311 (+)NCBINCBI36hg18NCBI36
Build 36Y57,509,845 - 57,524,511 (+)NCBINCBI36hg18NCBI36
Build 34Y57,438,581 - 57,453,248NCBI
CeleraX155,151,125 - 155,165,835 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,477,606 - 143,492,323 (+)NCBIHuRef
CHM1_1X154,754,068 - 154,923,774 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IBA)
membrane  (IEA)

Molecular Function

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

Human Phenotype
Ependymoma  (IAGP)
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9458049   PMID:10655549   PMID:10887178   PMID:12391162   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15950061   PMID:16344560   PMID:16500999   PMID:16877379   PMID:17207965  
PMID:17974561   PMID:21873635   PMID:26089202   PMID:28625976   PMID:29293652   PMID:30878395   PMID:31374860   PMID:32296183  


Genomics

Comparative Map Data
SPRY3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,767,812 - 155,782,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX155,612,572 - 155,782,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y56,954,255 - 56,968,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,612,586 - 155,782,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,842,247 - 155,012,121 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y59,100,403 - 59,115,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X154,650,645 - 154,665,311 (+)NCBINCBI36hg18NCBI36
Build 36Y57,509,845 - 57,524,511 (+)NCBINCBI36hg18NCBI36
Build 34Y57,438,581 - 57,453,248NCBI
CeleraX155,151,125 - 155,165,835 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,477,606 - 143,492,323 (+)NCBIHuRef
CHM1_1X154,754,068 - 154,923,774 (+)NCBICHM1_1
Spry3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX NCBI
Spry3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21216,663,188 - 16,673,124 (+)NCBI
Rnor_6.0 Ensembl1218,931,477 - 18,940,614 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01218,930,087 - 18,940,622 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01220,923,714 - 20,933,886 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41217,343,080 - 17,344,990 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1218,607,973 - 18,609,883 (+)NCBICelera
Cytogenetic Map12q11NCBI
Spry3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594151,117 - 158,627 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955594151,117 - 158,627 (-)NCBIChiLan1.0ChiLan1.0
SPRY3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X155,125,484 - 155,134,534 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX155,131,596 - 155,132,462 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X145,080,299 - 145,239,922 (+)NCBIMhudiblu_PPA_v0panPan3
SPRY3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,436,201 - 123,624,816 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX123,620,920 - 123,621,786 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,425,110 - 108,612,073 (+)NCBI
ROS_Cfam_1.0X126,568,537 - 126,761,891 (+)NCBI
UMICH_Zoey_3.1X122,307,070 - 122,494,024 (+)NCBI
UNSW_CanFamBas_1.0X124,829,781 - 125,016,753 (+)NCBI
UU_Cfam_GSD_1.0X124,560,893 - 124,747,839 (+)NCBI
Spry3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X120,329,720 - 120,451,847 (+)NCBI
SpeTri2.0NW_004936958225,179 - 232,843 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPRY3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,754,671 - 125,763,639 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,744,643 - 125,764,342 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,637,587 - 142,728,609 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPRY3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,727,879 - 129,840,393 (+)NCBI
ChlSab1.1 EnsemblX129,838,996 - 129,839,862 (+)Ensembl
Spry3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624980209,271 - 311,332 (-)NCBI

Position Markers
SPRY3__5307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,114,501 - 59,115,160UniSTSGRCh37
GRCh37X155,011,495 - 155,012,154UniSTSGRCh37
Build 36X154,664,689 - 154,665,348RGDNCBI36
CeleraX155,165,213 - 155,165,872RGD
HuRefX143,491,701 - 143,492,360UniSTS
SPRY3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,106,960 - 59,107,117UniSTSGRCh37
GRCh37X155,003,954 - 155,004,111UniSTSGRCh37
CeleraX155,157,629 - 155,157,786UniSTS
HuRefX143,484,115 - 143,484,272UniSTS
UniSTS:481800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,106,470 - 59,107,578UniSTSGRCh37
GRCh37X155,003,464 - 155,004,572UniSTSGRCh37
CeleraX155,157,139 - 155,158,247UniSTS
HuRefX143,483,625 - 143,484,733UniSTS
UniSTS:482152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,106,494 - 59,107,450UniSTSGRCh37
GRCh37X155,003,488 - 155,004,444UniSTSGRCh37
CeleraX155,157,163 - 155,158,119UniSTS
HuRefX143,483,649 - 143,484,605UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2886
Count of miRNA genes:1202
Interacting mature miRNAs:1504
Transcripts:ENST00000302805
Prediction methods:Miranda
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 2 66 12 4
Low 2317 2484 1485 391 1268 234 3830 1846 3391 329 1322 1500 163 1198 2490 1
Below cutoff 112 499 236 230 652 229 524 346 251 89 113 91 6 6 298 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF041038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU164699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA102958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302805   ⟹   ENSP00000302978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,767,812 - 155,782,459 (+)Ensembl
RefSeq Acc Id: ENST00000675360   ⟹   ENSP00000502489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,612,588 - 155,776,795 (+)Ensembl
RefSeq Acc Id: ENST00000676089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,612,572 - 155,738,214 (+)Ensembl
RefSeq Acc Id: NM_001304990   ⟹   NP_001291919
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,612,586 - 155,782,459 (+)NCBI
CHM1_1X154,754,068 - 154,923,774 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005840   ⟹   NP_005831
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y56,954,255 - 56,968,979 (+)NCBI
GRCh38X155,767,735 - 155,782,459 (+)NCBI
GRCh37X154,842,226 - 155,012,121 (+)NCBI
GRCh37Y59,100,457 - 59,115,123 (+)NCBI
Build 36X154,650,645 - 154,665,311 (+)NCBI Archive
Build 36Y57,509,845 - 57,524,511 (+)NCBI Archive
CeleraX155,151,125 - 155,165,835 (+)RGD
HuRefX143,477,606 - 143,492,323 (+)RGD
CHM1_1X154,909,015 - 154,923,774 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005831   ⟸   NM_005840
- UniProtKB: O43610 (UniProtKB/Swiss-Prot),   Q6ZUP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291919   ⟸   NM_001304990
- UniProtKB: O43610 (UniProtKB/Swiss-Prot),   Q6ZUP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000302978   ⟸   ENST00000302805
RefSeq Acc Id: ENSP00000502489   ⟸   ENST00000675360
Protein Domains
SPR

Promoters
RGD ID:13628710
Promoter ID:EPDNEW_H29593
Type:initiation region
Name:SPRY3_1
Description:sprouty RTK signaling antagonist 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29595  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,612,586 - 155,612,646EPDNEW
RGD ID:13628714
Promoter ID:EPDNEW_H29595
Type:initiation region
Name:SPRY3_2
Description:sprouty RTK signaling antagonist 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29593  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,767,752 - 155,767,812EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
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 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [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
GRCh38/hg38 Xq28(chrX:155678751-155951918)x0 copy number loss See cases [RCV000051074] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:155678751-155951918)x1 copy number loss See cases [RCV000051075] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28
likely benign
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 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: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 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 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 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 Xq28(chrX:155745034-155996392)x0 copy number loss See cases [RCV000134861] ChrX:155745034..155996392 [GRCh38]
ChrX:154974696..155226057 [GRCh37]
ChrX:154627890..154879251 [NCBI36]
ChrX:Xq28
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 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 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:155745005-155978689)x0 copy number loss See cases [RCV000133784] ChrX:155745005..155978689 [GRCh38]
ChrX:154974667..155208354 [GRCh37]
ChrX:154627861..154861548 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
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:155745005-155996431)x3 copy number gain See cases [RCV000054350] ChrX:155745005..155996431 [GRCh38]
ChrX:154974667..155226096 [GRCh37]
ChrX:154627861..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155782123-155967288)x3 copy number gain See cases [RCV000054351] ChrX:155782123..155967288 [GRCh38]
ChrX:155011785..155196953 [GRCh37]
ChrX:154664979..154850147 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
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
NC_000023.11:g.(155524633_155545096)_(155545276_155612791)del deletion Autism, susceptibility to, X-linked 6 [RCV000024616] ChrX:155545096..155545276 [GRCh38]
ChrX:Xq28
pathogenic|risk factor
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 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
GRCh38/hg38 Xq28(chrX:155622472-155763377)x3 copy number gain See cases [RCV000139821] ChrX:155622472..155763377 [GRCh38]
ChrX:154906586..154993039 [GRCh37]
ChrX:154505327..154646233 [NCBI36]
ChrX:Xq28
likely benign
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:155590324-155718284)x3 copy number gain See cases [RCV000140485] ChrX:155590324..155718284 [GRCh38]
ChrX:154819985..154947945 [GRCh37]
ChrX:154473179..154601139 [NCBI36]
ChrX:Xq28
likely 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 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 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 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12
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: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: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 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: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 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 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:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
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 Yq12(chrY:56968643-57098882)x0 copy number loss See cases [RCV000136544] ChrY:56968643..57098882 [GRCh38]
ChrY:59114791..59245032 [GRCh37]
ChrY:57524179..57654420 [NCBI36]
ChrY:Yq12
uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 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: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: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 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:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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: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: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 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 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 Xq28(chrX:155509742-155960682)x1 copy number loss See cases [RCV000138108] ChrX:155509742..155960682 [GRCh38]
ChrX:154739403..155190347 [GRCh37]
ChrX:154392597..154843541 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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: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 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 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 Xq28(chrX:155611617-155699644)x3 copy number gain See cases [RCV000139223] ChrX:155611617..155699644 [GRCh38]
ChrX:154494472..154582499 [NCBI36]
ChrX:Xq28
likely benign
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
NM_005840.2(SPRY3):c.55C>T (p.Arg19Cys) single nucleotide variant Ependymoma [RCV000577858] ChrX:155773926 [GRCh38]
ChrY:56960446 [GRCh38]
ChrX:155003588 [GRCh37]
ChrY:59106594 [GRCh37]
ChrX:Xq28
ChrY:Yq12
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12
likely pathogenic
NM_005840.2(SPRY3):c.108A>G (p.Lys36=) single nucleotide variant not provided [RCV000900189] ChrX:155773979 [GRCh38]
ChrY:56960499 [GRCh38]
ChrX:155003641 [GRCh37]
ChrY:59106647 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11271 AgrOrtholog
COSMIC SPRY3 COSMIC
Ensembl Genes ENSG00000168939 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000302978 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502489 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302805 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675360 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000168939 GTEx
HGNC ID HGNC:11271 ENTREZGENE
Human Proteome Map SPRY3 Human Proteome Map
InterPro Sprouty UniProtKB/Swiss-Prot
  SPRY3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10251 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10251 ENTREZGENE
OMIM 300531 OMIM
PANTHER PTHR12365:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sprouty UniProtKB/Swiss-Prot
PharmGKB PA36100 PharmGKB
PROSITE SPR UniProtKB/Swiss-Prot
UniProt O43610 ENTREZGENE
  Q6ZUP3 ENTREZGENE, UniProtKB/TrEMBL
  SPY3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K0H8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-30 SPRY3  sprouty RTK signaling antagonist 3    sprouty homolog 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED