REPS2 (RALBP1 associated Eps domain containing 2) - Rat Genome Database

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Gene: REPS2 (RALBP1 associated Eps domain containing 2) Homo sapiens
Analyze
Symbol: REPS2
Name: RALBP1 associated Eps domain containing 2
RGD ID: 1347143
HGNC Page HGNC
Description: Predicted to have calcium ion binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: partner of Ral-binding protein 1; partner of RalBP1; POB1; ralBP1-associated Eps domain-containing protein 2; RALBP1-interacting protein 2
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 EnsemblX16,946,658 - 17,153,272 (+)EnsemblGRCh38hg38GRCh38
GRCh38X16,946,658 - 17,220,724 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X16,964,781 - 17,171,395 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X16,874,735 - 17,081,324 (+)NCBINCBI36hg18NCBI36
Build 34X16,724,470 - 16,925,392NCBI
CeleraX21,145,068 - 21,292,536 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX14,724,183 - 14,930,872 (+)NCBIHuRef
CHM1_1X16,995,199 - 17,202,074 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9422736   PMID:9928989   PMID:10393179   PMID:10557078   PMID:10764745   PMID:11882656   PMID:12149250   PMID:12771942   PMID:12775724   PMID:14702039   PMID:15184881   PMID:15455380  
PMID:15604093   PMID:15707977   PMID:15809337   PMID:18029348   PMID:18154663   PMID:18474607   PMID:18647389   PMID:19776672   PMID:21873635   PMID:23741527   PMID:23803043   PMID:26344197  
PMID:26496610   PMID:26950368   PMID:27120794   PMID:28514442   PMID:28579616   PMID:29507755   PMID:30021884  


Genomics

Comparative Map Data
REPS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX16,946,658 - 17,153,272 (+)EnsemblGRCh38hg38GRCh38
GRCh38X16,946,658 - 17,220,724 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X16,964,781 - 17,171,395 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X16,874,735 - 17,081,324 (+)NCBINCBI36hg18NCBI36
Build 34X16,724,470 - 16,925,392NCBI
CeleraX21,145,068 - 21,292,536 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX14,724,183 - 14,930,872 (+)NCBIHuRef
CHM1_1X16,995,199 - 17,202,074 (+)NCBICHM1_1
Reps2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X161,194,948 - 161,426,701 (-)NCBIGRCm39mm39
GRCm39 EnsemblX161,194,950 - 161,426,645 (-)Ensembl
GRCm38X162,411,952 - 162,643,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX162,411,954 - 162,643,649 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X158,849,886 - 159,081,533 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X157,756,059 - 157,987,706 (-)NCBImm8
MGSCv36X139,537,472 - 139,770,717 (-)NCBImm8
CeleraX145,639,101 - 145,869,883 (-)NCBICelera
Cytogenetic MapXF4NCBI
Reps2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X32,049,455 - 32,322,317 (+)NCBI
Rnor_6.0 EnsemblX33,884,499 - 34,057,399 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X33,786,611 - 34,062,941 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X34,130,478 - 34,406,791 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X52,808,111 - 53,083,646 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX32,353,214 - 32,614,472 (+)NCBICelera
Cytogenetic MapXq14NCBI
Reps2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555191,136,519 - 1,358,313 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555191,131,027 - 1,358,313 (-)NCBIChiLan1.0ChiLan1.0
REPS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X16,939,054 - 17,135,428 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX16,939,049 - 17,135,428 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X9,568,868 - 9,766,428 (+)NCBIMhudiblu_PPA_v0panPan3
REPS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X13,088,980 - 13,320,534 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX13,088,349 - 13,307,402 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX12,940,276 - 13,173,085 (+)NCBI
ROS_Cfam_1.0X13,052,504 - 13,284,466 (+)NCBI
UMICH_Zoey_3.1X13,120,303 - 13,351,623 (+)NCBI
UNSW_CanFamBas_1.0X13,106,213 - 13,337,743 (+)NCBI
UU_Cfam_GSD_1.0X13,175,119 - 13,406,775 (+)NCBI
Reps2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X6,218,037 - 6,428,776 (+)NCBI
SpeTri2.0NW_0049364706,218,035 - 6,428,776 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REPS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX13,412,128 - 13,658,902 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X13,413,362 - 13,658,907 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X14,564,243 - 14,692,734 (+)NCBISscrofa10.2Sscrofa10.2susScr3
REPS2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X15,373,177 - 15,572,121 (+)NCBI
Reps2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248291,673,474 - 2,035,015 (+)NCBI

Position Markers
SHGC-68499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X16,999,150 - 16,999,469UniSTSGRCh37
Build 36X16,909,071 - 16,909,390RGDNCBI36
CeleraX21,118,829 - 21,119,148RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,759,730 - 14,760,049UniSTS
TNG Radiation Hybrid MapX5776.0UniSTS
DXS1391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X16,976,123 - 16,976,280UniSTSGRCh37
Build 36X16,886,044 - 16,886,201RGDNCBI36
CeleraX21,095,257 - 21,095,414RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,735,615 - 14,735,772UniSTS
SHGC-151217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,048,499 - 17,048,689UniSTSGRCh37
Build 36X16,958,420 - 16,958,610RGDNCBI36
CeleraX21,169,196 - 21,169,386RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,808,352 - 14,808,542UniSTS
TNG Radiation Hybrid Map11584.0UniSTS
TNG Radiation Hybrid MapX5776.0UniSTS
SHGC-145288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,080,244 - 17,080,580UniSTSGRCh37
Build 36X16,990,165 - 16,990,501RGDNCBI36
CeleraX21,200,888 - 21,201,224RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,840,310 - 14,840,646UniSTS
TNG Radiation Hybrid MapX5776.0UniSTS
SHGC-145340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,121,999 - 17,122,269UniSTSGRCh37
Build 36X17,031,920 - 17,032,190RGDNCBI36
CeleraX21,242,616 - 21,242,886RGD
Cytogenetic MapXp22.2UniSTS
TNG Radiation Hybrid MapX5781.0UniSTS
SHGC-152393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,048,443 - 17,048,731UniSTSGRCh37
GRCh37X17,048,439 - 17,048,731UniSTSGRCh37
Build 36X16,958,360 - 16,958,652RGDNCBI36
CeleraX21,169,134 - 21,169,428RGD
CeleraX21,169,140 - 21,169,428UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX14,808,288 - 14,808,584UniSTS
HuRefX14,808,296 - 14,808,584UniSTS
TNG Radiation Hybrid Map1332976.0UniSTS
DXS9765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,131,435 - 17,131,597UniSTSGRCh37
Build 36X17,041,356 - 17,041,518RGDNCBI36
CeleraX21,252,570 - 21,252,732RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,891,222 - 14,891,384UniSTS
L77321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X16,977,653 - 16,977,787UniSTSGRCh37
Build 36X16,887,574 - 16,887,708RGDNCBI36
CeleraX21,096,787 - 21,096,921RGD
Cytogenetic MapXp22.2UniSTS
HuRefX14,737,498 - 14,737,632UniSTS
AB056347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,170,855 - 17,170,967UniSTSGRCh37
Build 36X17,080,776 - 17,080,888RGDNCBI36
CeleraX21,291,988 - 21,292,100RGD
HuRefX14,930,324 - 14,930,436UniSTS
D11S3374  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map6p25.1UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19p13.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5037
Count of miRNA genes:1131
Interacting mature miRNAs:1451
Transcripts:ENST00000303843, ENST00000357277, ENST00000380064, ENST00000469714, ENST00000470686, ENST00000481792
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 305 370 419 14 380 4 5 221 1880 110 218 126 11 4
Low 2113 2435 1288 594 1057 447 3846 1336 1824 280 1215 1449 160 1 1198 2307 2 1
Below cutoff 17 181 16 13 443 11 504 635 29 29 23 38 3 6 477 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF511533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF512951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI221053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL845433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL929302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL954659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303843   ⟹   ENSP00000306033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX16,946,862 - 17,153,272 (+)Ensembl
RefSeq Acc Id: ENST00000357277   ⟹   ENSP00000349824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX16,946,658 - 17,153,272 (+)Ensembl
RefSeq Acc Id: ENST00000469714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,074,513 - 17,147,629 (+)Ensembl
RefSeq Acc Id: ENST00000470686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,135,694 - 17,147,628 (+)Ensembl
RefSeq Acc Id: ENST00000481792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX16,947,070 - 17,022,371 (+)Ensembl
RefSeq Acc Id: NM_001080975   ⟹   NP_001074444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
GRCh37X16,964,814 - 17,171,403 (+)ENTREZGENE
GRCh37X16,964,814 - 17,171,403 (+)NCBI
Build 36X16,874,735 - 17,081,324 (+)NCBI Archive
HuRefX14,724,183 - 14,930,872 (+)ENTREZGENE
CHM1_1X16,995,199 - 17,202,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004726   ⟹   NP_004717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
GRCh37X16,964,814 - 17,171,403 (+)ENTREZGENE
GRCh37X16,964,814 - 17,171,403 (+)NCBI
Build 36X16,874,735 - 17,081,324 (+)NCBI Archive
HuRefX14,724,183 - 14,930,872 (+)ENTREZGENE
CHM1_1X16,995,199 - 17,202,074 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274625   ⟹   XP_005274682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,153,277 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274626   ⟹   XP_005274683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,153,277 (+)NCBI
GRCh37X16,964,814 - 17,171,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545603   ⟹   XP_011543905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545604   ⟹   XP_011543906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545605   ⟹   XP_011543907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,875 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545606   ⟹   XP_011543908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,866 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545607   ⟹   XP_011543909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,876 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545609   ⟹   XP_011543911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,978,626 - 17,187,854 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029955   ⟹   XP_016885444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,875 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029956   ⟹   XP_016885445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,194,275 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029957   ⟹   XP_016885446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,142,252 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029958   ⟹   XP_016885447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,153,277 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452478   ⟹   XP_024308246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,220,724 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452479   ⟹   XP_024308247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,187,865 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755742
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,727 - 17,153,277 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004717   ⟸   NM_004726
- Peptide Label: isoform 1
- UniProtKB: Q8NFH8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001074444   ⟸   NM_001080975
- Peptide Label: isoform 2
- UniProtKB: Q8NFH8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274682   ⟸   XM_005274625
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_005274683   ⟸   XM_005274626
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011543907   ⟸   XM_011545605
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543909   ⟸   XM_011545607
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011543905   ⟸   XM_011545603
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543906   ⟸   XM_011545604
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543908   ⟸   XM_011545606
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011543911   ⟸   XM_011545609
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016885445   ⟸   XM_017029956
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885444   ⟸   XM_017029955
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885447   ⟸   XM_017029958
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016885446   ⟸   XM_017029957
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024308246   ⟸   XM_024452478
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308247   ⟸   XM_024452479
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000306033   ⟸   ENST00000303843
RefSeq Acc Id: ENSP00000349824   ⟸   ENST00000357277
Protein Domains
EF-hand   EH

Promoters
RGD ID:6808752
Promoter ID:HG_KWN:66124
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3
Transcripts:ENST00000380063,   NM_001080975,   NM_004726,   OTTHUMT00000055925
Position:
Human AssemblyChrPosition (strand)Source
Build 36X16,874,436 - 16,874,987 (+)MPROMDB
RGD ID:13604846
Promoter ID:EPDNEW_H28607
Type:initiation region
Name:REPS2_2
Description:RALBP1 associated Eps domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28608  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,725 - 16,946,785EPDNEW
RGD ID:13604850
Promoter ID:EPDNEW_H28608
Type:initiation region
Name:REPS2_1
Description:RALBP1 associated Eps domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28607  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,870 - 16,946,930EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004726.2(REPS2):c.273+3483G>A single nucleotide variant Lung cancer [RCV000102452] ChrX:16950617 [GRCh38]
ChrX:16968740 [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:10679-156013167)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:10679-156022206)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)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-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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-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 Xp22.33-11.21(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-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 Xp22.33-22.11(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 Xp22.33-22.12(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-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: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 Xp22.33-11.22(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_004726.2(REPS2):c.982G>A (p.Asp328Asn) single nucleotide variant Malignant melanoma [RCV000063955] ChrX:17054818 [GRCh38]
ChrX:17072941 [GRCh37]
ChrX:16982862 [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
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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156013167)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: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: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 Xp22.33-11.23(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 Xp22.33-11.21(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:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-21.1(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: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 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-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 Xp22.33-11.22(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-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-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 Xp22.33-11.22(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 Xp22.33-22.12(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: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 Xp22.33-11.23(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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 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 Xp22.33-11.4(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:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:16967798-17710902)x3 copy number gain See cases [RCV000143672] ChrX:16967798..17710902 [GRCh38]
ChrX:16985921..17729022 [GRCh37]
ChrX:16895842..17638943 [NCBI36]
ChrX:Xp22.2-22.13
likely benign|uncertain significance
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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2 copy number gain See cases [RCV000240031] ChrX:16997258..17701223 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
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 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
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-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-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-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [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-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
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-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(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: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(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 Xp22.2-22.13(chrX:16985921-17731101)x2 copy number gain See cases [RCV000510220] ChrX:16985921..17731101 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(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 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16709776-17445121)x2 copy number gain not provided [RCV000684280] ChrX:16709776..17445121 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3 copy number gain not provided [RCV000684281] ChrX:16969302..17731092 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.13(chrX:17134123-17653170)x2 copy number gain not provided [RCV000684282] ChrX:17134123..17653170 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.13(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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-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
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004726.3(REPS2):c.217G>A (p.Gly73Ser) single nucleotide variant not provided [RCV000900860] ChrX:16947078 [GRCh38]
ChrX:16965201 [GRCh37]
ChrX:Xp22.2
likely benign
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
NM_004726.3(REPS2):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV000892724] ChrX:16947040 [GRCh38]
ChrX:16965163 [GRCh37]
ChrX:Xp22.2
likely benign
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
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 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
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 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
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 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
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
NM_004726.3(REPS2):c.39A>G (p.Ala13=) single nucleotide variant not provided [RCV000965518] ChrX:16946900 [GRCh38]
ChrX:16965023 [GRCh37]
ChrX:Xp22.2
likely benign
NM_004726.3(REPS2):c.1968G>A (p.Pro656=) single nucleotide variant not provided [RCV000919302] ChrX:17147466 [GRCh38]
ChrX:17165589 [GRCh37]
ChrX:Xp22.2
likely benign
NM_004726.3(REPS2):c.1857T>C (p.Asn619=) single nucleotide variant not provided [RCV000891183] ChrX:17138904 [GRCh38]
ChrX:17157027 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2-22.13(chrX:16936982-17292905)x3 copy number gain not provided [RCV001007269] ChrX:16936982..17292905 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
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 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16985921-17729022)x2 copy number gain not provided [RCV001260012] ChrX:16985921..17729022 [GRCh37]
ChrX:Xp22.2-22.13
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:9963 AgrOrtholog
COSMIC REPS2 COSMIC
Ensembl Genes ENSG00000169891 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306033 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349824 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303843 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000357277 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000169891 GTEx
HGNC ID HGNC:9963 ENTREZGENE
Human Proteome Map REPS2 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  EH_dom UniProtKB/Swiss-Prot
KEGG Report hsa:9185 UniProtKB/Swiss-Prot
NCBI Gene 9185 ENTREZGENE
OMIM 300317 OMIM
Pfam EF-hand_4 UniProtKB/Swiss-Prot
PharmGKB PA34330 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
  PS50031 UniProtKB/Swiss-Prot
SMART SM00027 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt Q8NFH8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6PWZ6 UniProtKB/Swiss-Prot
  O43428 UniProtKB/Swiss-Prot
  Q5JNZ8 UniProtKB/Swiss-Prot
  Q8NFI5 UniProtKB/Swiss-Prot