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:9963
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to be located in cytosol. Predicted to be active in cytoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh38X16,946,658 - 17,196,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX16,946,658 - 17,153,272 (+)EnsemblGRCh38hg38GRCh38
GRCh37X16,964,781 - 17,171,395 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X16,874,735 - 17,081,324 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X16,724,470 - 16,925,392NCBI
CeleraX21,145,068 - 21,292,536 (+)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX14,724,183 - 14,930,872 (+)NCBIHuRef
CHM1_1X16,995,199 - 17,202,074 (+)NCBICHM1_1
T2T-CHM13v2.0X16,529,181 - 16,776,698 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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   PMID:33961781   PMID:35271311   PMID:35690292   PMID:35914814   PMID:36736316  
PMID:37219487  


Genomics

Comparative Map Data
REPS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X16,946,658 - 17,196,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX16,946,658 - 17,153,272 (+)EnsemblGRCh38hg38GRCh38
GRCh37X16,964,781 - 17,171,395 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X16,874,735 - 17,081,324 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X16,724,470 - 16,925,392NCBI
CeleraX21,145,068 - 21,292,536 (+)NCBICelera
Cytogenetic MapXp22.2NCBI
HuRefX14,724,183 - 14,930,872 (+)NCBIHuRef
CHM1_1X16,995,199 - 17,202,074 (+)NCBICHM1_1
T2T-CHM13v2.0X16,529,181 - 16,776,698 (+)NCBIT2T-CHM13v2.0
Reps2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X161,194,949 - 161,426,701 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX161,194,950 - 161,426,645 (-)EnsemblGRCm39 Ensembl
GRCm38X162,411,952 - 162,643,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX162,411,954 - 162,643,649 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X158,849,886 - 159,081,533 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X157,756,059 - 157,987,706 (-)NCBIMGSCv36mm8
MGSCv36X139,537,472 - 139,770,717 (-)NCBIMGSCv36mm8
CeleraX145,639,101 - 145,869,883 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX74.67NCBI
Reps2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X35,681,260 - 35,954,103 (+)NCBIGRCr8
mRatBN7.2X32,049,455 - 32,322,317 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX32,049,399 - 32,317,414 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0X33,786,611 - 34,062,941 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX33,884,499 - 34,057,399 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X34,130,478 - 34,406,791 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X52,808,111 - 53,083,646 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X18,743,853 - 18,946,217 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X18,747,250 - 18,949,606 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X9,568,868 - 9,766,428 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X16,939,054 - 17,135,428 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX16,939,049 - 17,135,428 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X13,052,504 - 13,284,466 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX13,052,464 - 13,271,765 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X13,120,303 - 13,351,623 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X13,106,213 - 13,337,743 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X13,175,119 - 13,406,775 (+)NCBIUU_Cfam_GSD_1.0
Reps2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X6,218,037 - 6,428,776 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364706,218,047 - 6,423,408 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364706,218,035 - 6,428,776 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REPS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX13,412,838 - 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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X15,373,177 - 15,572,121 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605617,228,349 - 17,455,080 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Reps2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248291,673,523 - 1,931,863 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248291,673,474 - 2,035,015 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in REPS2
33 total Variants

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
NM_004726.3(REPS2):c.1750A>G (p.Thr584Ala) single nucleotide variant Inborn genetic diseases [RCV003304922] ChrX:17135348 [GRCh38]
ChrX:17153471 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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 Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely pathogenic
Single allele duplication Autism [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.41C>T (p.Ala14Val) single nucleotide variant Inborn genetic diseases [RCV003252613] ChrX:16946902 [GRCh38]
ChrX:16965025 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 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
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004726.3(REPS2):c.524G>C (p.Arg175Thr) single nucleotide variant Inborn genetic diseases [RCV003276951] ChrX:17022249 [GRCh38]
ChrX:17040372 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16985922-17729022)x3 copy number gain not provided [RCV002474617] ChrX:16985922..17729022 [GRCh37]
ChrX:Xp22.2-22.13		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_004726.3(REPS2):c.1820A>C (p.Lys607Thr) single nucleotide variant Inborn genetic diseases [RCV002840974] ChrX:17138867 [GRCh38]
ChrX:17156990 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.200C>G (p.Thr67Arg) single nucleotide variant Inborn genetic diseases [RCV002859836] ChrX:16947061 [GRCh38]
ChrX:16965184 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1294A>G (p.Ile432Val) single nucleotide variant Inborn genetic diseases [RCV002799164] ChrX:17069954 [GRCh38]
ChrX:17088077 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1748C>T (p.Ser583Phe) single nucleotide variant Inborn genetic diseases [RCV002736991] ChrX:17135346 [GRCh38]
ChrX:17153469 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1165T>C (p.Ser389Pro) single nucleotide variant Inborn genetic diseases [RCV002661914] ChrX:17062488 [GRCh38]
ChrX:17080611 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1172C>T (p.Pro391Leu) single nucleotide variant Inborn genetic diseases [RCV002983448] ChrX:17062495 [GRCh38]
ChrX:17080618 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1645A>G (p.Ser549Gly) single nucleotide variant Inborn genetic diseases [RCV002805170] ChrX:17133890 [GRCh38]
ChrX:17152013 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1775C>T (p.Ala592Val) single nucleotide variant Inborn genetic diseases [RCV002986343] ChrX:17135373 [GRCh38]
ChrX:17153496 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_004726.3(REPS2):c.709G>A (p.Glu237Lys) single nucleotide variant Inborn genetic diseases [RCV002941841] ChrX:17029561 [GRCh38]
ChrX:17047684 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.700G>T (p.Val234Phe) single nucleotide variant Inborn genetic diseases [RCV002856005] ChrX:17029552 [GRCh38]
ChrX:17047675 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.722C>T (p.Ser241Leu) single nucleotide variant Inborn genetic diseases [RCV002656157] ChrX:17029574 [GRCh38]
ChrX:17047697 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.599C>T (p.Pro200Leu) single nucleotide variant Inborn genetic diseases [RCV003178244] ChrX:17025111 [GRCh38]
ChrX:17043234 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.110G>A (p.Cys37Tyr) single nucleotide variant Inborn genetic diseases [RCV003196578] ChrX:16946971 [GRCh38]
ChrX:16965094 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.130C>G (p.Arg44Gly) single nucleotide variant Inborn genetic diseases [RCV003210907] ChrX:16946991 [GRCh38]
ChrX:16965114 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.269A>G (p.His90Arg) single nucleotide variant Inborn genetic diseases [RCV003286770] ChrX:16947130 [GRCh38]
ChrX:16965253 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.376C>T (p.Arg126Trp) single nucleotide variant Inborn genetic diseases [RCV003192184] ChrX:17006323 [GRCh38]
ChrX:17024446 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV003338062] ChrX:17138869 [GRCh38]
ChrX:17156992 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.161G>C (p.Gly54Ala) single nucleotide variant Inborn genetic diseases [RCV003363850] ChrX:16947022 [GRCh38]
ChrX:16965145 [GRCh37]
ChrX:Xp22.2		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
NM_004726.3(REPS2):c.160G>C (p.Gly54Arg) single nucleotide variant not provided [RCV003441063] ChrX:16947021 [GRCh38]
ChrX:16965144 [GRCh37]
ChrX:Xp22.2		 uncertain significance
NM_004726.3(REPS2):c.705G>A (p.Gln235=) single nucleotide variant not provided [RCV003441064] ChrX:17029557 [GRCh38]
ChrX:17047680 [GRCh37]
ChrX:Xp22.2		 likely benign
NM_004726.3(REPS2):c.1233T>C (p.Ala411=) single nucleotide variant not provided [RCV003441065] ChrX:17068425 [GRCh38]
ChrX:17086548 [GRCh37]
ChrX:Xp22.2		 likely benign
NC_000023.11:g.17187377A>G single nucleotide variant not provided [RCV003441066] ChrX:17187377 [GRCh38]
ChrX:17205500 [GRCh37]
ChrX:Xp22.2		 likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16773068-17546881)x3 copy number gain not provided [RCV003885526] ChrX:16773068..17546881 [GRCh37]
ChrX:Xp22.2-22.13		 uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0 copy number loss not provided [RCV003885525] ChrX:16582625..18323335 [GRCh37]
ChrX:Xp22.2-22.13		 pathogenic
NM_004726.3(REPS2):c.529G>A (p.Asp177Asn) single nucleotide variant Inborn genetic diseases [RCV003341124] ChrX:17022254 [GRCh38]
ChrX:17040377 [GRCh37]
ChrX:Xp22.2		 uncertain significance
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.

Markers in Region
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


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
  XM_047442626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328103 (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
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303843   ⟹   ENSP00000306033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX16,946,862 - 17,153,272 (+)Ensembl
RefSeq Acc Id: ENST00000357277   ⟹   ENSP00000349824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX16,946,658 - 17,153,272 (+)Ensembl
RefSeq Acc Id: ENST00000469714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX17,074,513 - 17,147,629 (+)Ensembl
RefSeq Acc Id: ENST00000470686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX17,135,694 - 17,147,628 (+)Ensembl
RefSeq Acc Id: ENST00000481792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)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
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274625   ⟹   XP_005274682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274626   ⟹   XP_005274683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
GRCh37X16,964,814 - 17,171,403 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545603   ⟹   XP_011543905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545604   ⟹   XP_011543906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545605   ⟹   XP_011543907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545606   ⟹   XP_011543908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545607   ⟹   XP_011543909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029955   ⟹   XP_016885444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029956   ⟹   XP_016885445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,196,655 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029957   ⟹   XP_016885446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,141,501 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029958   ⟹   XP_016885447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452479   ⟹   XP_024308247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,189,880 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047442626   ⟹   XP_047298582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
RefSeq Acc Id: XM_047442627   ⟹   XP_047298583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,153,272 (+)NCBI
RefSeq Acc Id: XM_047442628   ⟹   XP_047298584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X16,946,658 - 17,133,908 (+)NCBI
RefSeq Acc Id: XM_054328089   ⟹   XP_054184064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328090   ⟹   XP_054184065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328091   ⟹   XP_054184066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328092   ⟹   XP_054184067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328093   ⟹   XP_054184068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
RefSeq Acc Id: XM_054328094   ⟹   XP_054184069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,776,698 (+)NCBI
RefSeq Acc Id: XM_054328095   ⟹   XP_054184070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,724,867 (+)NCBI
RefSeq Acc Id: XM_054328096   ⟹   XP_054184071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328097   ⟹   XP_054184072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328098   ⟹   XP_054184073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
RefSeq Acc Id: XM_054328099   ⟹   XP_054184074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
RefSeq Acc Id: XM_054328100   ⟹   XP_054184075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
RefSeq Acc Id: XM_054328101   ⟹   XP_054184076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,772,494 (+)NCBI
RefSeq Acc Id: XM_054328102   ⟹   XP_054184077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,735,889 (+)NCBI
RefSeq Acc Id: XM_054328103   ⟹   XP_054184078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X16,529,181 - 16,716,526 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001074444 (Get FASTA)   NCBI Sequence Viewer  
  NP_004717 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274682 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274683 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543905 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543906 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543907 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543908 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543909 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885444 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885445 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885446 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885447 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308247 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298582 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298584 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184078 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC02901 (Get FASTA)   NCBI Sequence Viewer  
  AAM43933 (Get FASTA)   NCBI Sequence Viewer  
  AAM43953 (Get FASTA)   NCBI Sequence Viewer  
  BAD92174 (Get FASTA)   NCBI Sequence Viewer  
  BAG61020 (Get FASTA)   NCBI Sequence Viewer  
  EAW98922 (Get FASTA)   NCBI Sequence Viewer  
  EAW98923 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000306033
  ENSP00000306033.7
  ENSP00000349824
  ENSP00000349824.3
GenBank Protein Q8NFH8 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004717   ⟸   NM_004726
- Peptide Label: isoform 1
- UniProtKB: Q5JNZ8 (UniProtKB/Swiss-Prot),   O43428 (UniProtKB/Swiss-Prot),   A6PWZ6 (UniProtKB/Swiss-Prot),   Q8NFI5 (UniProtKB/Swiss-Prot),   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_016885445   ⟸   XM_017029956
- Peptide Label: isoform X6
- 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 X7
- Sequence:
RefSeq Acc Id: XP_024308247   ⟸   XM_024452479
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000306033   ⟸   ENST00000303843
RefSeq Acc Id: ENSP00000349824   ⟸   ENST00000357277
RefSeq Acc Id: XP_047298582   ⟸   XM_047442626
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047298583   ⟸   XM_047442627
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047298584   ⟸   XM_047442628
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054184069   ⟸   XM_054328094
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054184064   ⟸   XM_054328089
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054184071   ⟸   XM_054328096
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054184066   ⟸   XM_054328091
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054184065   ⟸   XM_054328090
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054184072   ⟸   XM_054328097
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054184067   ⟸   XM_054328092
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054184076   ⟸   XM_054328101
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054184073   ⟸   XM_054328098
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054184068   ⟸   XM_054328093
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054184075   ⟸   XM_054328100
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054184074   ⟸   XM_054328099
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054184077   ⟸   XM_054328102
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054184070   ⟸   XM_054328095
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054184078   ⟸   XM_054328103
- Peptide Label: isoform X15
Protein Domains
EF-hand   EH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NFH8-F1-model_v2 AlphaFold Q8NFH8 1-660 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9963 AgrOrtholog
COSMIC REPS2 COSMIC
Ensembl Genes ENSG00000169891 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303843 ENTREZGENE
  ENST00000303843.7 UniProtKB/Swiss-Prot
  ENST00000357277 ENTREZGENE
  ENST00000357277.8 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand 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
PANTHER EH DOMAIN UniProtKB/Swiss-Prot
  RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot
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 A6PWZ6 ENTREZGENE
  O43428 ENTREZGENE
  Q5JNZ8 ENTREZGENE
  Q8NFH8 ENTREZGENE
  Q8NFI5 ENTREZGENE
  REPS2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6PWZ6 UniProtKB/Swiss-Prot
  O43428 UniProtKB/Swiss-Prot
  Q5JNZ8 UniProtKB/Swiss-Prot
  Q8NFI5 UniProtKB/Swiss-Prot