SLC25A43 (solute carrier family 25 member 43) - Rat Genome Database

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Gene: SLC25A43 (solute carrier family 25 member 43) Homo sapiens
Analyze
Symbol: SLC25A43
Name: solute carrier family 25 member 43
RGD ID: 1605262
HGNC Page HGNC:30557
Description: Predicted to be involved in transmembrane transport. Predicted to be located in mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: solute carrier family 25, member 43
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC090095.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X119,399,336 - 119,454,478 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX119,399,336 - 119,454,478 (+)EnsemblGRCh38hg38GRCh38
GRCh37X118,533,299 - 118,588,441 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,417,051 - 118,472,462 (+)NCBINCBI36Build 36hg18NCBI36
CeleraX118,987,995 - 119,043,163 (+)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,026,280 - 108,081,595 (+)NCBIHuRef
CHM1_1X118,444,484 - 118,499,613 (+)NCBICHM1_1
T2T-CHM13v2.0X117,777,069 - 117,832,189 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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:12477932   PMID:14702039   PMID:16949250   PMID:17207965   PMID:19322201   PMID:21145461   PMID:21623375   PMID:22430806   PMID:22883974   PMID:23266187   PMID:23354756   PMID:26721434  
PMID:28514442   PMID:29117863   PMID:31753913   PMID:33961781  


Genomics

Comparative Map Data
SLC25A43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X119,399,336 - 119,454,478 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX119,399,336 - 119,454,478 (+)EnsemblGRCh38hg38GRCh38
GRCh37X118,533,299 - 118,588,441 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,417,051 - 118,472,462 (+)NCBINCBI36Build 36hg18NCBI36
CeleraX118,987,995 - 119,043,163 (+)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,026,280 - 108,081,595 (+)NCBIHuRef
CHM1_1X118,444,484 - 118,499,613 (+)NCBICHM1_1
T2T-CHM13v2.0X117,777,069 - 117,832,189 (+)NCBIT2T-CHM13v2.0
Slc25a43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X36,007,223 - 36,040,960 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX36,007,312 - 36,040,855 (+)EnsemblGRCm39 Ensembl
GRCm38X36,743,570 - 36,777,307 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX36,743,659 - 36,777,202 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X34,283,654 - 34,317,197 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X33,175,104 - 33,208,667 (+)NCBIMGSCv36mm8
CeleraX23,467,500 - 23,501,050 (+)NCBICelera
Cytogenetic MapXA3.3NCBI
cM MapX21.15NCBI
Slc25a43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X120,843,181 - 120,877,515 (+)NCBIGRCr8
mRatBN7.2X115,977,437 - 116,011,789 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX115,977,510 - 116,011,205 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0X123,349,836 - 123,384,798 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX123,350,346 - 123,384,846 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X123,495,546 - 123,529,964 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X8,096,134 - 8,129,172 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX115,207,320 - 115,241,851 (+)NCBICelera
Cytogenetic MapXq34NCBI
Slc25a43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955534510,898 - 548,047 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955534513,757 - 548,027 (-)NCBIChiLan1.0ChiLan1.0
SLC25A43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X118,783,908 - 118,833,815 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X118,787,584 - 118,838,056 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X108,435,500 - 108,485,383 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X118,861,673 - 118,910,892 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX118,861,673 - 118,910,892 (+)Ensemblpanpan1.1panPan2
SLC25A43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X91,471,700 - 91,511,373 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX91,471,642 - 91,509,790 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX77,548,122 - 77,586,215 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X93,212,826 - 93,250,836 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX93,212,102 - 93,249,250 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X90,665,636 - 90,703,655 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X92,424,339 - 92,462,345 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X92,153,245 - 92,191,350 (+)NCBIUU_Cfam_GSD_1.0
Slc25a43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X90,488,242 - 90,531,863 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647910,453,187 - 10,499,251 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647910,455,632 - 10,499,224 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX97,868,696 - 97,906,760 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X97,868,804 - 97,906,771 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,758,765 - 113,796,853 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606532,147,116 - 32,195,759 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc25a43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248953,428,522 - 3,459,848 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248953,428,439 - 3,460,829 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC25A43
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
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: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)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 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: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: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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-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-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
NM_145305.2(SLC25A43):c.397C>T (p.Arg133Trp) single nucleotide variant Malignant melanoma [RCV000073054] ChrX:119406581 [GRCh38]
ChrX:118540544 [GRCh37]
ChrX:118424572 [NCBI36]
ChrX:Xq24
not provided
NM_145305.2(SLC25A43):c.405C>T (p.Ile135=) single nucleotide variant Malignant melanoma [RCV000073055] ChrX:119406589 [GRCh38]
ChrX:118540552 [GRCh37]
ChrX:118424580 [NCBI36]
ChrX:Xq24
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24(chrX:118533367-118679467)x1 copy number loss not provided [RCV003221463] ChrX:118533367..118679467 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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: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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq24(chrX:119249519-119495781)x1 copy number loss See cases [RCV000140821] ChrX:119249519..119495781 [GRCh38]
ChrX:118383482..118629744 [GRCh37]
ChrX:118267510..118513772 [NCBI36]
ChrX:Xq24
uncertain significance
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xq24(chrX:118373134-118638612)x0 copy number loss See cases [RCV000447673] ChrX:118373134..118638612 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq24(chrX:118500893-118576253)x0 copy number loss not provided [RCV000684378] ChrX:118500893..118576253 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_145305.3(SLC25A43):c.640G>A (p.Val214Met) single nucleotide variant not specified [RCV004683611] ChrX:119410312 [GRCh38]
ChrX:118544275 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118053103-119334499)x2 copy number gain not provided [RCV000753733] ChrX:118053103..119334499 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118376418-118628753)x0 copy number loss not provided [RCV000753734] ChrX:118376418..118628753 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24(chrX:118379487-118638610)x0 copy number loss not provided [RCV000849356] ChrX:118379487..118638610 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118367010-118583065)x0 copy number loss not provided [RCV000849394] ChrX:118367010..118583065 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24(chrX:118448972-118601219)x0 copy number loss not provided [RCV000848671] ChrX:118448972..118601219 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118315830-118650083)x0 copy number loss not provided [RCV000849107] ChrX:118315830..118650083 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
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 Xq24(chrX:118483217-118593000)x1 copy number loss not provided [RCV000847136] ChrX:118483217..118593000 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
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
GRCh37/hg19 Xq24(chrX:117651370-118792490)x2 copy number gain not provided [RCV002472458] ChrX:117651370..118792490 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-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 Xq24(chrX:118373134-118638612) copy number loss not specified [RCV002053179] ChrX:118373134..118638612 [GRCh37]
ChrX:Xq24
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_117629935)_(119761021_?)dup duplication not provided [RCV003109599] ChrX:117629935..119761021 [GRCh37]
ChrX:Xq24
uncertain significance
NC_000023.10:g.(?_117629935)_(119761021_?)del deletion Syndromic X-linked intellectual disability 14 [RCV004579598]|X-linked intellectual disability Cabezas type [RCV003113287] ChrX:117629935..119761021 [GRCh37]
ChrX:Xq24
pathogenic
NM_145305.3(SLC25A43):c.580G>A (p.Gly194Arg) single nucleotide variant not specified [RCV004289759] ChrX:119410252 [GRCh38]
ChrX:118544215 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24
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_145305.3(SLC25A43):c.809C>T (p.Thr270Ile) single nucleotide variant not specified [RCV004333141] ChrX:119452127 [GRCh38]
ChrX:118586090 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118498236-118804983)x1 copy number loss not provided [RCV002472695] ChrX:118498236..118804983 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24
pathogenic
GRCh37/hg19 Xq24(chrX:118373135-118592055)x0 copy number loss not provided [RCV002474885] ChrX:118373135..118592055 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.278T>C (p.Phe93Ser) single nucleotide variant not specified [RCV004132484] ChrX:119406462 [GRCh38]
ChrX:118540425 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.184G>A (p.Ala62Thr) single nucleotide variant not specified [RCV004222862] ChrX:119399587 [GRCh38]
ChrX:118533550 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.55G>T (p.Ala19Ser) single nucleotide variant not specified [RCV004148320] ChrX:119399458 [GRCh38]
ChrX:118533421 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.854G>T (p.Ser285Ile) single nucleotide variant not specified [RCV004216770] ChrX:119452893 [GRCh38]
ChrX:118586856 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.968G>A (p.Arg323Gln) single nucleotide variant not specified [RCV004193633] ChrX:119453007 [GRCh38]
ChrX:118586970 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.224C>T (p.Ala75Val) single nucleotide variant not specified [RCV004075441] ChrX:119399627 [GRCh38]
ChrX:118533590 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.346G>A (p.Ala116Thr) single nucleotide variant not specified [RCV004263736] ChrX:119406530 [GRCh38]
ChrX:118540493 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.119C>T (p.Ala40Val) single nucleotide variant not specified [RCV004272877] ChrX:119399522 [GRCh38]
ChrX:118533485 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118544103-118676607)x0 copy number loss Intellectual disability, X-linked 107 [RCV003329545] ChrX:118544103..118676607 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq24(chrX:118400946-118564608)x0 copy number loss not provided [RCV003485441] ChrX:118400946..118564608 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25
pathogenic
GRCh37/hg19 Xq24(chrX:118474781-118552267)x1 copy number loss not provided [RCV003483928] ChrX:118474781..118552267 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2 copy number gain not provided [RCV003483973] ChrX:110921170..124327177 [GRCh37]
ChrX:Xq23-25
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24
pathogenic
GRCh38/hg38 Xq24(chrX:119146025-119709342) copy number gain Autism spectrum disorder [RCV003883413] ChrX:119146025..119709342 [GRCh38]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28
pathogenic
NM_145305.3(SLC25A43):c.328A>G (p.Ile110Val) single nucleotide variant SLC25A43-related disorder [RCV003963824] ChrX:119406512 [GRCh38]
ChrX:118540475 [GRCh37]
ChrX:Xq24
likely benign
NM_145305.3(SLC25A43):c.57T>C (p.Ala19=) single nucleotide variant SLC25A43-related disorder [RCV003964469] ChrX:119399460 [GRCh38]
ChrX:118533423 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28
pathogenic
NM_145305.3(SLC25A43):c.672C>T (p.Thr224=) single nucleotide variant SLC25A43-related disorder [RCV003912095] ChrX:119410344 [GRCh38]
ChrX:118544307 [GRCh37]
ChrX:Xq24
likely benign
NM_145305.3(SLC25A43):c.167G>A (p.Gly56Glu) single nucleotide variant not specified [RCV004456583] ChrX:119399570 [GRCh38]
ChrX:118533533 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.134T>C (p.Val45Ala) single nucleotide variant not specified [RCV004456582] ChrX:119399537 [GRCh38]
ChrX:118533500 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.341G>T (p.Ser114Ile) single nucleotide variant not specified [RCV004456584] ChrX:119406525 [GRCh38]
ChrX:118540488 [GRCh37]
ChrX:Xq24
uncertain significance
NM_145305.3(SLC25A43):c.533C>T (p.Ser178Phe) single nucleotide variant not specified [RCV004456585] ChrX:119410205 [GRCh38]
ChrX:118544168 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_145305.3(SLC25A43):c.17G>T (p.Arg6Leu) single nucleotide variant not specified [RCV004672345] ChrX:119399420 [GRCh38]
ChrX:118533383 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2 copy number gain Intellectual disability [RCV004776416] ChrX:119043046..123885987 [GRCh38]
ChrX:Xq24-25
pathogenic
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:958
Count of miRNA genes:602
Interacting mature miRNAs:654
Transcripts:ENST00000217909, ENST00000336249, ENST00000484058, ENST00000488158, ENST00000493093
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597424528GWAS1520602_Hglomerular filtration rate QTL GWAS1520602 (human)3e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)X119448420119448421Human
407060686GWAS709662_Hosteitis deformans QTL GWAS709662 (human)0.0000001osteitis deformansX119433739119433740Human

Markers in Region
AL023949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,566,103 - 118,566,347UniSTSGRCh37
Build 36X118,450,131 - 118,450,375RGDNCBI36
CeleraX119,020,828 - 119,021,072RGD
Cytogenetic MapXq24UniSTS
HuRefX108,059,034 - 108,059,278UniSTS
G42856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,579,385 - 118,580,292UniSTSGRCh37
Build 36X118,463,413 - 118,464,320RGDNCBI36
CeleraX119,034,106 - 119,035,012RGD
Cytogenetic MapXq24UniSTS
HuRefX108,072,948 - 108,073,853UniSTS
G54520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,582,067 - 118,583,034UniSTSGRCh37
CeleraX119,036,787 - 119,037,754UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,075,111 - 108,076,078UniSTS
G54552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,581,254 - 118,582,244UniSTSGRCh37
CeleraX119,035,974 - 119,036,964UniSTS
Cytogenetic MapXq24UniSTS
G54553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,543,957 - 118,544,545UniSTSGRCh37
CeleraX118,998,696 - 118,999,284UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,037,421 - 108,038,009UniSTS
G54557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,580,303 - 118,581,272UniSTSGRCh37
CeleraX119,035,023 - 119,035,992UniSTS
Cytogenetic MapXq24UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4972 1726 2349 6 624 1943 465 2270 7299 6465 53 3731 1 852 1743 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM907537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000217909   ⟹   ENSP00000217909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX119,399,336 - 119,454,478 (+)Ensembl
Ensembl Acc Id: ENST00000484058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX119,406,556 - 119,452,941 (+)Ensembl
Ensembl Acc Id: ENST00000488158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX119,399,380 - 119,454,472 (+)Ensembl
Ensembl Acc Id: ENST00000493093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX119,399,409 - 119,453,182 (+)Ensembl
RefSeq Acc Id: NM_145305   ⟹   NP_660348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,454,478 (+)NCBI
GRCh37X118,533,258 - 118,588,441 (+)RGD
Build 36X118,417,051 - 118,472,462 (+)NCBI Archive
CeleraX118,987,995 - 119,043,163 (+)RGD
HuRefX108,026,280 - 108,081,595 (+)ENTREZGENE
CHM1_1X118,444,484 - 118,499,613 (+)NCBI
T2T-CHM13v2.0X117,777,069 - 117,832,189 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029340   ⟹   XP_016884829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,418,493 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029341   ⟹   XP_016884830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,418,493 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441901   ⟹   XP_047297857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,002 (+)NCBI
RefSeq Acc Id: XM_047441902   ⟹   XP_047297858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,090 (+)NCBI
RefSeq Acc Id: XM_047441903   ⟹   XP_047297859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,426,254 (+)NCBI
RefSeq Acc Id: XM_054326652   ⟹   XP_054182627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,713 (+)NCBI
RefSeq Acc Id: XM_054326653   ⟹   XP_054182628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,796,227 (+)NCBI
RefSeq Acc Id: XM_054326654   ⟹   XP_054182629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,801 (+)NCBI
RefSeq Acc Id: XM_054326655   ⟹   XP_054182630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,803,979 (+)NCBI
RefSeq Acc Id: XM_054326656   ⟹   XP_054182631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,796,227 (+)NCBI
RefSeq Acc Id: XR_001755662
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,090 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755664
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,426,198 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008485460
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,801 (+)NCBI
RefSeq Acc Id: XR_008485461
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,854 (+)NCBI
RefSeq Acc Id: XR_008485462
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,800 (+)NCBI
RefSeq Acc Id: XR_008485463
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,829,801 (+)NCBI
RefSeq Acc Id: XR_008485464
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X117,777,069 - 117,803,923 (+)NCBI
RefSeq Acc Id: XR_938545
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,089 (+)NCBI
Sequence:
RefSeq Acc Id: XR_938546
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,143 (+)NCBI
Sequence:
RefSeq Acc Id: XR_938547
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,336 - 119,452,090 (+)NCBI
Sequence:
RefSeq Acc Id: NP_660348   ⟸   NM_145305
- UniProtKB: Q8WUT9 (UniProtKB/Swiss-Prot),   O75854 (UniProtKB/Swiss-Prot),   Q8N9L5 (UniProtKB/Swiss-Prot),   A8K7M0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884829   ⟸   XM_017029340
- Peptide Label: isoform X2
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884830   ⟸   XM_017029341
- Peptide Label: isoform X5
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000217909   ⟸   ENST00000217909
RefSeq Acc Id: XP_047297858   ⟸   XM_047441902
- Peptide Label: isoform X3
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297857   ⟸   XM_047441901
- Peptide Label: isoform X1
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297859   ⟸   XM_047441903
- Peptide Label: isoform X4
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182629   ⟸   XM_054326654
- Peptide Label: isoform X3
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182627   ⟸   XM_054326652
- Peptide Label: isoform X1
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182630   ⟸   XM_054326655
- Peptide Label: isoform X4
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182631   ⟸   XM_054326656
- Peptide Label: isoform X5
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182628   ⟸   XM_054326653
- Peptide Label: isoform X2
- UniProtKB: B3KRB9 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WUT9-F1-model_v2 AlphaFold Q8WUT9 1-341 view protein structure

Promoters
RGD ID:6808675
Promoter ID:HG_KWN:67874
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000326714,   OTTHUMT00000058028,   OTTHUMT00000058029,   OTTHUMT00000058031,   OTTHUMT00000058032,   UC004ERC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,416,686 - 118,417,537 (+)MPROMDB
RGD ID:13627946
Promoter ID:EPDNEW_H29248
Type:initiation region
Name:SLC25A43_1
Description:solute carrier family 25 member 43
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,399,315 - 119,399,375EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30557 AgrOrtholog
COSMIC SLC25A43 COSMIC
Ensembl Genes ENSG00000077713 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217909 ENTREZGENE
  ENST00000217909.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000077713 GTEx
HGNC ID HGNC:30557 ENTREZGENE
Human Proteome Map SLC25A43 Human Proteome Map
InterPro Mit_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203427 UniProtKB/Swiss-Prot
NCBI Gene 203427 ENTREZGENE
OMIM 300641 OMIM
PANTHER SOLUTE CARRIER FAMILY 25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mito_carr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162403704 PharmGKB
PRINTS MITOCARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOLCAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Mitochondrial carrier UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A8K7M0 ENTREZGENE, UniProtKB/TrEMBL
  B3KRB9 ENTREZGENE, UniProtKB/TrEMBL
  O75854 ENTREZGENE
  Q8N9L5 ENTREZGENE
  Q8WUT9 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O75854 UniProtKB/Swiss-Prot
  Q8N9L5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC25A43  solute carrier family 25 member 43    solute carrier family 25, member 43  Symbol and/or name change 5135510 APPROVED