SHROOM2 (shroom family member 2) - Rat Genome Database

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Gene: SHROOM2 (shroom family member 2) Homo sapiens
Analyze
Symbol: SHROOM2
Name: shroom family member 2
RGD ID: 1343092
HGNC Page HGNC
Description: Predicted to have actin filament binding activity; beta-catenin binding activity; and protein domain specific binding activity. Predicted to be involved in several processes, including apical protein localization; pigment granule organization; and sensory organ development. Localizes to extracellular exosome. Colocalizes with cortical actin cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: apical protein, Xenopus laevis-like; apical protein-like (xenopus laevis); apical-like protein; APX homolog of Xenopus; APXL; DKFZp781J074; FLJ39277; HSAPXL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SHROOM2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX9,786,429 - 9,949,443 (+)EnsemblGRCh38hg38GRCh38
GRCh38X9,786,406 - 9,949,443 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X9,754,469 - 9,917,483 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,714,496 - 9,877,481 (+)NCBINCBI36hg18NCBI36
Build 34X9,564,231 - 9,727,217NCBI
CeleraX13,926,415 - 14,088,764 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,649,792 - 7,749,592 (+)NCBIHuRef
CHM1_1X9,784,898 - 9,947,903 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease 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:7795590   PMID:8889548   PMID:12477932   PMID:14702039   PMID:15324660   PMID:15772651   PMID:16615870   PMID:16684770   PMID:17081983   PMID:17474147   PMID:17979178   PMID:19056867  
PMID:21248203   PMID:21873635   PMID:22634755   PMID:23535732   PMID:28611215   PMID:29423651   PMID:29507755   PMID:29509190   PMID:30021884   PMID:30160833   PMID:30683844   PMID:30726710  
PMID:31240132  


Genomics

Comparative Map Data
SHROOM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX9,786,429 - 9,949,443 (+)EnsemblGRCh38hg38GRCh38
GRCh38X9,786,406 - 9,949,443 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X9,754,469 - 9,917,483 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X9,714,496 - 9,877,481 (+)NCBINCBI36hg18NCBI36
Build 34X9,564,231 - 9,727,217NCBI
CeleraX13,926,415 - 14,088,764 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,649,792 - 7,749,592 (+)NCBIHuRef
CHM1_1X9,784,898 - 9,947,903 (+)NCBICHM1_1
Shroom2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X151,392,505 - 151,553,784 (-)NCBIGRCm39mm39
GRCm39 EnsemblX151,392,505 - 151,552,461 (-)Ensembl
GRCm38X152,609,509 - 152,770,788 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,609,509 - 152,769,465 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X149,044,052 - 149,204,004 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X147,950,225 - 148,110,177 (-)NCBImm8
CeleraX136,481,951 - 136,643,123 (+)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Shroom2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X21,812,469 - 21,983,724 (-)NCBI
Rnor_6.0 EnsemblX23,478,871 - 23,649,466 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X23,478,869 - 23,649,424 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X23,895,809 - 24,066,198 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X42,290,709 - 42,462,067 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX22,219,215 - 22,383,703 (-)NCBICelera
Cytogenetic MapXq13NCBI
Shroom2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554998,031,615 - 8,100,952 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554998,031,961 - 8,103,307 (+)NCBIChiLan1.0ChiLan1.0
SHROOM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X9,673,879 - 9,832,733 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX9,755,524 - 9,832,733 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X2,418,883 - 2,580,853 (+)NCBIMhudiblu_PPA_v0panPan3
SHROOM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X6,499,570 - 6,642,738 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX6,499,354 - 6,641,946 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX6,454,916 - 6,598,952 (+)NCBI
ROS_Cfam_1.0X6,445,261 - 6,589,721 (+)NCBI
UMICH_Zoey_3.1X6,436,580 - 6,580,045 (+)NCBI
UNSW_CanFamBas_1.0X6,472,007 - 6,615,248 (+)NCBI
UU_Cfam_GSD_1.0X6,462,126 - 6,605,626 (+)NCBI
Shroom2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049534,249,252 - 4,334,127 (+)NCBI
SpeTri2.0NW_00493664442,620 - 127,481 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHROOM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX6,296,133 - 6,448,126 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X6,296,212 - 6,450,401 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y4,753,733 - 4,785,766 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X6,699,136 - 6,801,756 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SHROOM2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X8,242,714 - 8,405,051 (+)NCBI
ChlSab1.1 EnsemblX8,345,056 - 8,405,552 (+)Ensembl
Shroom2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248347,329,651 - 7,504,960 (+)NCBI

Position Markers
RH18181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,916,140 - 9,916,315UniSTSGRCh37
Build 36X9,876,140 - 9,876,315RGDNCBI36
CeleraX14,087,423 - 14,087,598RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,748,251 - 7,748,426UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
A007I24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,916,121 - 9,916,367UniSTSGRCh37
Build 36X9,876,121 - 9,876,367RGDNCBI36
CeleraX14,087,404 - 14,087,650RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,748,232 - 7,748,478UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
SHGC-58453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,822,780 - 9,822,929UniSTSGRCh37
Build 36X9,782,780 - 9,782,929RGDNCBI36
CeleraX13,994,074 - 13,994,223RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,655,452 - 7,655,601UniSTS
AF003658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,859,888 - 9,859,989UniSTSGRCh37
Build 36X9,819,888 - 9,819,989RGDNCBI36
CeleraX14,031,173 - 14,031,274RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,692,384 - 7,692,485UniSTS
AF003664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,801,608 - 9,801,712UniSTSGRCh37
Build 36X9,761,608 - 9,761,712RGDNCBI36
CeleraX13,972,897 - 13,973,001RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,634,187 - 7,634,291UniSTS
G49443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,862,728 - 9,862,883UniSTSGRCh37
Build 36X9,822,728 - 9,822,883RGDNCBI36
CeleraX14,034,014 - 14,034,169RGD
Cytogenetic MapXp22.3UniSTS
GDB:597633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,754,571 - 9,754,794UniSTSGRCh37
Build 36X9,714,571 - 9,714,794RGDNCBI36
CeleraX13,926,490 - 13,926,713RGD
Cytogenetic MapXp22.3UniSTS
GDB:597645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,841,657 - 9,841,882UniSTSGRCh37
Build 36X9,801,657 - 9,801,882RGDNCBI36
CeleraX14,012,942 - 14,013,167RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,674,139 - 7,674,364UniSTS
GDB:597735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,858,992 - 9,859,180UniSTSGRCh37
Build 36X9,818,992 - 9,819,180RGDNCBI36
CeleraX14,030,277 - 14,030,465RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,691,488 - 7,691,676UniSTS
GDB:599051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,862,350 - 9,862,541UniSTSGRCh37
Build 36X9,822,350 - 9,822,541RGDNCBI36
CeleraX14,033,636 - 14,033,827RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,694,847 - 7,695,038UniSTS
GDB:599415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,862,593 - 9,862,816UniSTSGRCh37
Build 36X9,822,593 - 9,822,816RGDNCBI36
CeleraX14,033,879 - 14,034,102RGD
Cytogenetic MapXp22.3UniSTS
GDB:599441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,863,142 - 9,863,314UniSTSGRCh37
Build 36X9,823,142 - 9,823,314RGDNCBI36
CeleraX14,034,428 - 14,034,600RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,695,652 - 7,695,824UniSTS
GDB:599465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,863,423 - 9,863,627UniSTSGRCh37
Build 36X9,823,423 - 9,823,627RGDNCBI36
CeleraX14,034,709 - 14,034,913RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,695,933 - 7,696,137UniSTS
GDB:599475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,863,561 - 9,863,787UniSTSGRCh37
Build 36X9,823,561 - 9,823,787RGDNCBI36
CeleraX14,034,847 - 14,035,073RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,696,071 - 7,696,297UniSTS
GDB:599486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,863,737 - 9,863,963UniSTSGRCh37
Build 36X9,823,737 - 9,823,963RGDNCBI36
CeleraX14,035,023 - 14,035,249RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,696,247 - 7,696,473UniSTS
GDB:599499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,864,111 - 9,864,343UniSTSGRCh37
Build 36X9,824,111 - 9,824,343RGDNCBI36
CeleraX14,035,397 - 14,035,629RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,696,621 - 7,696,853UniSTS
GDB:599508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,864,298 - 9,864,471UniSTSGRCh37
Build 36X9,824,298 - 9,824,471RGDNCBI36
CeleraX14,035,584 - 14,035,757RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,696,808 - 7,696,981UniSTS
GDB:599514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,864,402 - 9,864,623UniSTSGRCh37
Build 36X9,824,402 - 9,824,623RGDNCBI36
CeleraX14,035,688 - 14,035,909RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,696,912 - 7,697,133UniSTS
GDB:599521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,864,560 - 9,864,784UniSTSGRCh37
Build 36X9,824,560 - 9,824,784RGDNCBI36
CeleraX14,035,846 - 14,036,070RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,697,070 - 7,697,294UniSTS
GDB:599525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,866,168 - 9,866,371UniSTSGRCh37
Build 36X9,826,168 - 9,826,371RGDNCBI36
CeleraX14,037,452 - 14,037,655RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,698,678 - 7,698,881UniSTS
GDB:599536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,900,620 - 9,900,787UniSTSGRCh37
Build 36X9,860,620 - 9,860,787RGDNCBI36
CeleraX14,071,903 - 14,072,070RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,733,103 - 7,733,270UniSTS
GDB:599539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,900,721 - 9,900,935UniSTSGRCh37
Build 36X9,860,721 - 9,860,935RGDNCBI36
CeleraX14,072,004 - 14,072,218RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,733,204 - 7,733,418UniSTS
GDB:599542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,905,144 - 9,905,333UniSTSGRCh37
Build 36X9,865,144 - 9,865,333RGDNCBI36
CeleraX14,076,427 - 14,076,616RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,737,350 - 7,737,539UniSTS
GDB:599551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,905,445 - 9,905,589UniSTSGRCh37
Build 36X9,865,445 - 9,865,589RGDNCBI36
CeleraX14,076,728 - 14,076,872RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,737,651 - 7,737,795UniSTS
GDB:599554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,905,544 - 9,905,750UniSTSGRCh37
Build 36X9,865,544 - 9,865,750RGDNCBI36
CeleraX14,076,827 - 14,077,033RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,737,750 - 7,737,956UniSTS
GDB:603613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,912,647 - 9,912,869UniSTSGRCh37
Build 36X9,872,647 - 9,872,869RGDNCBI36
CeleraX14,083,930 - 14,084,152RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,744,758 - 7,744,980UniSTS
GDB:603624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,912,856 - 9,913,054UniSTSGRCh37
Build 36X9,872,856 - 9,873,054RGDNCBI36
CeleraX14,084,139 - 14,084,337RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,744,967 - 7,745,165UniSTS
GDB:603627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,914,679 - 9,914,910UniSTSGRCh37
Build 36X9,874,679 - 9,874,910RGDNCBI36
CeleraX14,085,962 - 14,086,193RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,746,790 - 7,747,021UniSTS
GDB:603631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,914,867 - 9,915,085UniSTSGRCh37
Build 36X9,874,867 - 9,875,085RGDNCBI36
CeleraX14,086,150 - 14,086,368RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,746,978 - 7,747,196UniSTS
APXL__4346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,916,754 - 9,917,503UniSTSGRCh37
Build 36X9,876,754 - 9,877,503RGDNCBI36
CeleraX14,088,037 - 14,088,786RGD
HuRefX7,748,865 - 7,749,614UniSTS
SHROOM2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X9,914,742 - 9,914,966UniSTSGRCh37
CeleraX14,086,025 - 14,086,249UniSTS
HuRefX7,746,853 - 7,747,077UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2383
Count of miRNA genes:1086
Interacting mature miRNAs:1291
Transcripts:ENST00000380913, ENST00000418909, ENST00000452575, ENST00000493668
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 20 2 17 6 9 6 214 13 183 66 250 118 1 1
Low 1755 700 1678 596 393 437 2836 526 3514 329 1183 1448 169 1037 1545 3
Below cutoff 621 2173 17 15 1052 15 1298 1640 32 18 13 25 2 1 167 1240

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM678914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380913   ⟹   ENSP00000370299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,786,429 - 9,949,443 (+)Ensembl
RefSeq Acc Id: ENST00000418909   ⟹   ENSP00000415229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,912,434 - 9,949,441 (+)Ensembl
RefSeq Acc Id: ENST00000452575   ⟹   ENSP00000406724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,912,683 - 9,946,708 (+)Ensembl
RefSeq Acc Id: ENST00000493668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX9,898,145 - 9,937,146 (+)Ensembl
RefSeq Acc Id: NM_001320663   ⟹   NP_001307592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,912,492 - 9,949,443 (+)NCBI
CHM1_1X9,910,833 - 9,947,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320664   ⟹   NP_001307593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,912,492 - 9,949,443 (+)NCBI
CHM1_1X9,910,833 - 9,947,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001649   ⟹   NP_001640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,786,429 - 9,949,443 (+)NCBI
GRCh37X9,754,496 - 9,917,585 (+)NCBI
Build 36X9,714,496 - 9,877,481 (+)NCBI Archive
CeleraX13,926,415 - 14,088,764 (+)RGD
HuRefX7,649,792 - 7,749,592 (+)RGD
CHM1_1X9,784,898 - 9,947,903 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274500   ⟹   XP_005274557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,786,406 - 9,949,443 (+)NCBI
GRCh37X9,754,496 - 9,917,585 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545506   ⟹   XP_011543808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,909,476 - 9,949,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029492   ⟹   XP_016884981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,909,476 - 9,949,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029493   ⟹   XP_016884982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,912,683 - 9,949,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029494   ⟹   XP_016884983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,912,683 - 9,949,443 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001640   ⟸   NM_001649
- Peptide Label: isoform 1
- UniProtKB: Q13796 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274557   ⟸   XM_005274500
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543808   ⟸   XM_011545506
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001307592   ⟸   NM_001320663
- Peptide Label: isoform 2
- UniProtKB: Q13796 (UniProtKB/Swiss-Prot),   B7Z682 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307593   ⟸   NM_001320664
- Peptide Label: isoform 3
- UniProtKB: Q13796 (UniProtKB/Swiss-Prot),   B7Z682 (UniProtKB/TrEMBL),   F5H3B6 (UniProtKB/TrEMBL),   Q68DU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884981   ⟸   XM_017029492
- Peptide Label: isoform X3
- UniProtKB: F5H3B6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884982   ⟸   XM_017029493
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884983   ⟸   XM_017029494
- Peptide Label: isoform X3
- UniProtKB: F5H3B6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406724   ⟸   ENST00000452575
RefSeq Acc Id: ENSP00000415229   ⟸   ENST00000418909
RefSeq Acc Id: ENSP00000370299   ⟸   ENST00000380913
Protein Domains
ASD1   ASD2   PDZ

Promoters
RGD ID:13604700
Promoter ID:EPDNEW_H28533
Type:initiation region
Name:SHROOM2_1
Description:shroom family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28534  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,786,429 - 9,786,489EPDNEW
RGD ID:13604698
Promoter ID:EPDNEW_H28534
Type:initiation region
Name:SHROOM2_2
Description:shroom family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X9,912,496 - 9,912,556EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001649.2(SHROOM2):c.3587+757G>C single nucleotide variant Lung cancer [RCV000103011] ChrX:9933627 [GRCh38]
ChrX:9901667 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.31-22.2(chrX:8327550-10980235)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] ChrX:8327550..10980235 [GRCh38]
ChrX:8295591..10998355 [GRCh37]
ChrX:8255591..10908276 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9511509-10060397)x2 copy number gain See cases [RCV000054139] ChrX:9511509..10060397 [GRCh38]
ChrX:9479549..10028437 [GRCh37]
ChrX:9439549..9988437 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001649.2(SHROOM2):c.1192C>T (p.Pro398Ser) single nucleotide variant Malignant melanoma [RCV000063980] ChrX:9895100 [GRCh38]
ChrX:9863140 [GRCh37]
ChrX:9823140 [NCBI36]
ChrX:Xp22.2
not provided
NM_001649.2(SHROOM2):c.1193C>T (p.Pro398Leu) single nucleotide variant Malignant melanoma [RCV000063981] ChrX:9895101 [GRCh38]
ChrX:9863141 [GRCh37]
ChrX:9823141 [NCBI36]
ChrX:Xp22.2
not provided
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31-22.2(chrX:9453761-10037284)x2 copy number gain See cases [RCV000447043] ChrX:9453761..10037284 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:9536510-10058627)x2 copy number gain See cases [RCV000511473] ChrX:9536510..10058627 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:9771972-9972645)x2 copy number gain not provided [RCV000659195] ChrX:9771972..9972645 [GRCh37]
ChrX:Xp22.2
likely benign
Single allele duplication not provided [RCV000677917] ChrX:9459547..10022198 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:9787331-9946656)x2 copy number gain not provided [RCV000753374] ChrX:9787331..9946656 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:9910182-9935526)x2 copy number gain not provided [RCV000753376] ChrX:9910182..9935526 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:9822921-10818845)x2 copy number gain not provided [RCV000753375] ChrX:9822921..10818845 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_001649.4(SHROOM2):c.2195T>A (p.Leu732Gln) single nucleotide variant not provided [RCV000959716] ChrX:9896103 [GRCh38]
ChrX:9864143 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001649.4(SHROOM2):c.2495C>T (p.Ala832Val) single nucleotide variant not provided [RCV000965516] ChrX:9896403 [GRCh38]
ChrX:9864443 [GRCh37]
ChrX:Xp22.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:9751653-10057942)x2 copy number gain not provided [RCV000845927] ChrX:9751653..10057942 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:9757407-10057942)x2 copy number gain not provided [RCV000846373] ChrX:9757407..10057942 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:9881680-9924989)x2 copy number gain not provided [RCV000845731] ChrX:9881680..9924989 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001649.4(SHROOM2):c.3774G>C (p.Ser1258=) single nucleotide variant not provided [RCV000958309] ChrX:9937320 [GRCh38]
ChrX:9905360 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:9895992-10348490)x3 copy number gain not provided [RCV001007256] ChrX:9895992..10348490 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:9751962-10054942)x2 copy number gain not provided [RCV001260011] ChrX:9751962..10054942 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:630 AgrOrtholog
COSMIC SHROOM2 COSMIC
Ensembl Genes ENSG00000146950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370299 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406724 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000415229 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418909 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000452575 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000146950 GTEx
HGNC ID HGNC:630 ENTREZGENE
Human Proteome Map SHROOM2 Human Proteome Map
InterPro ASD1_dom UniProtKB/Swiss-Prot
  ASD2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  Shroom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Shroom_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:357 UniProtKB/Swiss-Prot
NCBI Gene 357 ENTREZGENE
OMIM 300103 OMIM
PANTHER PTHR15012 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15012:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASD1 UniProtKB/Swiss-Prot
  ASD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot
PharmGKB PA24916 PharmGKB
PROSITE ASD1 UniProtKB/Swiss-Prot
  ASD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot
UniProt B7Z682 ENTREZGENE, UniProtKB/TrEMBL
  C9IZC6_HUMAN UniProtKB/TrEMBL
  F5H3B6 ENTREZGENE, UniProtKB/TrEMBL
  Q13796 ENTREZGENE
  Q68DU3 ENTREZGENE, UniProtKB/TrEMBL
  SHRM2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B9EIQ7 UniProtKB/Swiss-Prot