TMEM255A (transmembrane protein 255A) - Rat Genome Database

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Gene: TMEM255A (transmembrane protein 255A) Homo sapiens
Analyze
Symbol: TMEM255A
Name: transmembrane protein 255A
RGD ID: 1605993
HGNC Page HGNC:26086
Description: Predicted to act upstream of or within response to bacterium. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FAM70A; family with sequence similarity 70, member A; FLJ20716; hypothetical protein LOC55026; RP3-525N14.6
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
GRCh38X120,251,433 - 120,311,461 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX120,258,650 - 120,311,556 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,392,505 - 119,445,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,276,533 - 119,329,419 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX119,858,090 - 119,910,982 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,844,953 - 108,897,433 (-)NCBIHuRef
CHM1_1X119,303,796 - 119,356,597 (-)NCBICHM1_1
T2T-CHM13v2.0X118,626,490 - 118,686,494 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)

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:15489334   PMID:15772651   PMID:16344560   PMID:21832049   PMID:26186194   PMID:28514442   PMID:30833792   PMID:31729179   PMID:32393512   PMID:33961781  


Genomics

Comparative Map Data
TMEM255A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X120,251,433 - 120,311,461 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX120,258,650 - 120,311,556 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,392,505 - 119,445,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,276,533 - 119,329,419 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX119,858,090 - 119,910,982 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX108,844,953 - 108,897,433 (-)NCBIHuRef
CHM1_1X119,303,796 - 119,356,597 (-)NCBICHM1_1
T2T-CHM13v2.0X118,626,490 - 118,686,494 (-)NCBIT2T-CHM13v2.0
Tmem255a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X37,285,450 - 37,341,373 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX37,285,450 - 37,341,316 (-)EnsemblGRCm39 Ensembl
GRCm38X38,196,573 - 38,252,496 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX38,196,573 - 38,252,439 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X35,550,478 - 35,605,658 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X34,441,933 - 34,497,024 (-)NCBIMGSCv36mm8
CeleraX25,842,880 - 25,898,015 (-)NCBICelera
Cytogenetic MapXA3.3NCBI
cM MapX22.46NCBI
Tmem255a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X121,836,443 - 121,900,718 (-)NCBIGRCr8
mRatBN7.2X116,970,793 - 117,035,008 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX116,970,695 - 117,035,008 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX119,070,181 - 119,133,290 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X122,639,330 - 122,702,426 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X120,185,208 - 120,248,288 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X124,400,686 - 124,465,156 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX124,328,735 - 124,465,110 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X124,486,033 - 124,550,923 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X7,098,688 - 7,161,741 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X7,104,243 - 7,167,297 (+)NCBI
CeleraX116,188,387 - 116,245,740 (-)NCBICelera
Cytogenetic MapXq35NCBI
Tmem255a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555721,574,739 - 1,628,124 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555721,574,785 - 1,628,770 (+)NCBIChiLan1.0ChiLan1.0
TMEM255A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X119,805,876 - 119,858,497 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X119,809,481 - 119,862,101 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X109,530,719 - 109,583,320 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X119,718,047 - 119,770,580 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,718,047 - 119,770,580 (-)Ensemblpanpan1.1panPan2
TMEM255A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X92,251,820 - 92,301,660 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX92,251,816 - 92,301,558 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX78,280,937 - 78,333,039 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X93,989,942 - 94,041,992 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX93,989,944 - 94,041,993 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X91,444,928 - 91,497,015 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X93,201,798 - 93,253,853 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X92,982,830 - 93,034,915 (-)NCBIUU_Cfam_GSD_1.0
Tmem255a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X91,206,027 - 91,265,888 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364799,721,633 - 9,781,509 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364799,721,602 - 9,781,468 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM255A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,413,949 - 98,464,660 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,412,286 - 98,464,683 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,038,431 - 113,089,119 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM255A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606532,981,264 - 33,033,287 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem255a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462493169,514 - 148,512 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462493169,622 - 148,455 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM255A
29 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: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:10679-156013167)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-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 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 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 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 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 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 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: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 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
TMEM255A:c.63A>T single nucleotide variant Malignant melanoma [RCV000073058] ChrX:120304487 [GRCh38]
ChrX:119438342 [GRCh37]
ChrX:119322370 [NCBI36]
ChrX:Xq24		 not provided
NM_006777.3(ZBTB33):c.1283C>T (p.Ser428Leu) single nucleotide variant Malignant melanoma [RCV000073057] ChrX:120254698 [GRCh38]
ChrX:119388553 [GRCh37]
ChrX:119272581 [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
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 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 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 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: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 Xq24(chrX:120274633-121397280)x2 copy number gain See cases [RCV000135683] ChrX:120274633..121397280 [GRCh38]
ChrX:119495353..120531134 [GRCh37]
ChrX:119292516..120358815 [NCBI36]
ChrX:Xq24		 uncertain significance
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 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 Xq21.33-28(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 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 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 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: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 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 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 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 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 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 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)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 Xq24(chrX:120255501-120553935)x2 copy number gain See cases [RCV000143266] ChrX:120255501..120553935 [GRCh38]
ChrX:119495353..119687790 [GRCh37]
ChrX:119273384..119571818 [NCBI36]
ChrX:Xq24		 uncertain significance
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)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
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NC_000023.10:g.(?_118986730)_(119603030_?)dup duplication Danon disease [RCV000258048] ChrX:118986730..119603030 [GRCh37]
ChrX:Xq24		 uncertain significance
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
NM_001184742.2(ZBTB33):c.37C>G (p.Gln13Glu) single nucleotide variant not specified [RCV000413439] ChrX:120253452 [GRCh38]
ChrX:119387307 [GRCh37]
ChrX:Xq24		 uncertain significance
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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 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 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-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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 Xq24(chrX:119406524-119573123)x3 copy number gain See cases [RCV000510659] ChrX:119406524..119573123 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [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 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
NM_001184742.2(ZBTB33):c.1048G>A (p.Val350Ile) single nucleotide variant Inborn genetic diseases [RCV003300186] ChrX:120254463 [GRCh38]
ChrX:119388318 [GRCh37]
ChrX:Xq24		 uncertain significance
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
NM_001184742.2(ZBTB33):c.653A>T (p.Gln218Leu) single nucleotide variant not provided [RCV000584995] ChrX:120254068 [GRCh38]
ChrX:119387923 [GRCh37]
ChrX:Xq24		 uncertain significance
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 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
GRCh37/hg19 Xq24(chrX:119173700-119583001)x2 copy number gain not provided [RCV000845641] ChrX:119173700..119583001 [GRCh37]
ChrX:Xq24		 uncertain significance
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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: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
NM_001184742.2(ZBTB33):c.564_565insTGA (p.Asp189Ter) insertion not provided [RCV001690771] ChrX:120253979..120253980 [GRCh38]
ChrX:119387834..119387835 [GRCh37]
ChrX:Xq24		 benign
NM_001104544.3(TMEM255A):c.338T>C (p.Phe113Ser) single nucleotide variant Inborn genetic diseases [RCV003268099] ChrX:120291267 [GRCh38]
ChrX:119425122 [GRCh37]
ChrX:Xq24		 uncertain significance
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_001184742.2(ZBTB33):c.676A>G (p.Ile226Val) single nucleotide variant not provided [RCV000965526] ChrX:120254091 [GRCh38]
ChrX:119387946 [GRCh37]
ChrX:Xq24		 benign
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_001104544.3(TMEM255A):c.433C>T (p.Pro145Ser) single nucleotide variant not provided [RCV001573445] ChrX:120285206 [GRCh38]
ChrX:119419061 [GRCh37]
ChrX:Xq24		 likely benign
NM_001184742.2(ZBTB33):c.1873C>A (p.Pro625Thr) single nucleotide variant not provided [RCV000962902] ChrX:120255288 [GRCh38]
ChrX:119389143 [GRCh37]
ChrX:Xq24		 benign
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 Xq24(chrX:119173583-119470589)x2 copy number gain not provided [RCV001007337] ChrX:119173583..119470589 [GRCh37]
ChrX:Xq24		 uncertain significance
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 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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 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 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:119330575-119448144)x3 copy number gain not provided [RCV001834282] ChrX:119330575..119448144 [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 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2 copy number gain not provided [RCV001829257] ChrX:119173583..126584360 [GRCh37]
ChrX:Xq24-25		 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 Xp22.33-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 X-linked intellectual disability Cabezas type [RCV003113287] ChrX:117629935..119761021 [GRCh37]
ChrX:Xq24		 pathogenic
NC_000023.10:g.(?_118708675)_(119761021_?)dup duplication Syndromic X-linked intellectual disability 14 [RCV003123017] ChrX:118708675..119761021 [GRCh37]
ChrX:Xq24		 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 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 Xp22.2-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_001184742.2(ZBTB33):c.1397C>A (p.Thr466Lys) single nucleotide variant Inborn genetic diseases [RCV002882416] ChrX:120254812 [GRCh38]
ChrX:119388667 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.547A>G (p.Ile183Val) single nucleotide variant Inborn genetic diseases [RCV002906206] ChrX:120277013 [GRCh38]
ChrX:119410868 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.1912A>G (p.Met638Val) single nucleotide variant Inborn genetic diseases [RCV002998382] ChrX:120255327 [GRCh38]
ChrX:119389182 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.303T>G (p.Ile101Met) single nucleotide variant Inborn genetic diseases [RCV002887458] ChrX:120291302 [GRCh38]
ChrX:119425157 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.1003A>C (p.Ile335Leu) single nucleotide variant Inborn genetic diseases [RCV002884760] ChrX:120254418 [GRCh38]
ChrX:119388273 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.205G>A (p.Gly69Ser) single nucleotide variant Inborn genetic diseases [RCV002660975] ChrX:120294048 [GRCh38]
ChrX:119427903 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.1705A>G (p.Ile569Val) single nucleotide variant Inborn genetic diseases [RCV002955882] ChrX:120255120 [GRCh38]
ChrX:119388975 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.659G>T (p.Gly220Val) single nucleotide variant Inborn genetic diseases [RCV002803990] ChrX:120276901 [GRCh38]
ChrX:119410756 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.286A>T (p.Ile96Phe) single nucleotide variant Inborn genetic diseases [RCV002934280] ChrX:120291319 [GRCh38]
ChrX:119425174 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001104544.3(TMEM255A):c.464G>A (p.Arg155His) single nucleotide variant Inborn genetic diseases [RCV002674224] ChrX:120285175 [GRCh38]
ChrX:119419030 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.1408G>A (p.Glu470Lys) single nucleotide variant Inborn genetic diseases [RCV002769190] ChrX:120254823 [GRCh38]
ChrX:119388678 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.856A>G (p.Thr286Ala) single nucleotide variant Inborn genetic diseases [RCV003203147] ChrX:120254271 [GRCh38]
ChrX:119388126 [GRCh37]
ChrX:Xq24		 likely benign
NM_001184742.2(ZBTB33):c.592T>G (p.Cys198Gly) single nucleotide variant Inborn genetic diseases [RCV003343252] ChrX:120254007 [GRCh38]
ChrX:119387862 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_001184742.2(ZBTB33):c.623T>C (p.Leu208Ser) single nucleotide variant Inborn genetic diseases [RCV003352063] ChrX:120254038 [GRCh38]
ChrX:119387893 [GRCh37]
ChrX:Xq24		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
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 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2 copy number gain not provided [RCV003483973] ChrX:110921170..124327177 [GRCh37]
ChrX:Xq23-25		 pathogenic
NM_001184742.2(ZBTB33):c.1326T>C (p.Tyr442=) single nucleotide variant not provided [RCV003439722] ChrX:120254741 [GRCh38]
ChrX:119388596 [GRCh37]
ChrX:Xq24		 likely benign
NM_001184742.2(ZBTB33):c.-105+814G>A single nucleotide variant not provided [RCV003439720] ChrX:120251791 [GRCh38]
ChrX:119385646 [GRCh37]
ChrX:Xq24		 likely benign
NM_001184742.2(ZBTB33):c.105C>T (p.Thr35=) single nucleotide variant not provided [RCV003439721] ChrX:120253520 [GRCh38]
ChrX:119387375 [GRCh37]
ChrX:Xq24		 likely benign
NM_001184742.2(ZBTB33):c.*1127T>G single nucleotide variant not provided [RCV003439723] ChrX:120256561 [GRCh38]
ChrX:119390416 [GRCh37]
ChrX:Xq24		 benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4800
Count of miRNA genes:1114
Interacting mature miRNAs:1353
Transcripts:ENST00000309720, ENST00000371352, ENST00000371369, ENST00000440464, ENST00000480821, ENST00000519908
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-30611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,392,506 - 119,392,655UniSTSGRCh37
Build 36X119,276,534 - 119,276,683RGDNCBI36
CeleraX119,858,091 - 119,858,240RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,844,954 - 108,845,103UniSTS
GeneMap99-G3 RH MapX3571.0UniSTS
RH47097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,392,072 - 119,392,173UniSTSGRCh37
Build 36X119,276,100 - 119,276,201RGDNCBI36
CeleraX119,857,657 - 119,857,758RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,844,520 - 108,844,621UniSTS
AL008910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,397,048 - 119,397,188UniSTSGRCh37
Build 36X119,281,076 - 119,281,216RGDNCBI36
CeleraX119,862,632 - 119,862,772RGD
Cytogenetic MapXq24UniSTS
HuRefX108,849,269 - 108,849,409UniSTS
RH78409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,392,529 - 119,392,648UniSTSGRCh37
Build 36X119,276,557 - 119,276,676RGDNCBI36
CeleraX119,858,114 - 119,858,233RGD
Cytogenetic MapXq23UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,844,977 - 108,845,096UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
DXS8292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,396,181 - 119,396,300UniSTSGRCh37
Build 36X119,280,209 - 119,280,328RGDNCBI36
CeleraX119,861,765 - 119,861,884RGD
Cytogenetic MapXq24UniSTS
HuRefX108,848,402 - 108,848,521UniSTS
AL031105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,438,166 - 119,438,287UniSTSGRCh37
Build 36X119,322,194 - 119,322,315RGDNCBI36
CeleraX119,903,757 - 119,903,878RGD
Cytogenetic MapXq24UniSTS
HuRefX108,889,941 - 108,890,062UniSTS
AL008936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,403,346 - 119,403,532UniSTSGRCh37
Build 36X119,287,374 - 119,287,560RGDNCBI36
CeleraX119,868,930 - 119,869,116RGD
Cytogenetic MapXq24UniSTS
HuRefX108,855,855 - 108,856,041UniSTS
AB056807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,393,241 - 119,393,350UniSTSGRCh37
Build 36X119,277,269 - 119,277,378RGDNCBI36
CeleraX119,858,826 - 119,858,935RGD
HuRefX108,845,689 - 108,845,798UniSTS


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 119 15 35 3 54 3 476 58 957 50 288 49 4 139 431
Low 1989 1421 866 223 950 76 2812 1133 2742 261 700 1072 156 1 926 1465 1
Below cutoff 243 1482 751 331 809 318 1055 984 29 90 438 446 14 139 887 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001104544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001104545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF450484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA758358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB165640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000309720   ⟹   ENSP00000310110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,258,650 - 120,311,433 (-)Ensembl
RefSeq Acc Id: ENST00000371352   ⟹   ENSP00000360403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,258,651 - 120,285,991 (-)Ensembl
RefSeq Acc Id: ENST00000371369   ⟹   ENSP00000360420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,258,650 - 120,311,461 (-)Ensembl
RefSeq Acc Id: ENST00000440464   ⟹   ENSP00000405781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,258,651 - 120,311,536 (-)Ensembl
RefSeq Acc Id: ENST00000480821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,309,893 - 120,311,402 (-)Ensembl
RefSeq Acc Id: ENST00000519908   ⟹   ENSP00000428013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX120,268,363 - 120,311,556 (-)Ensembl
RefSeq Acc Id: NM_001104544   ⟹   NP_001098014
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,258,650 - 120,311,461 (-)NCBI
GRCh37X119,392,505 - 119,445,391 (-)RGD
Build 36X119,276,533 - 119,329,419 (-)NCBI Archive
CeleraX119,858,090 - 119,910,982 (-)RGD
HuRefX108,844,953 - 108,897,433 (-)ENTREZGENE
CHM1_1X119,303,796 - 119,356,597 (-)NCBI
T2T-CHM13v2.0X118,633,710 - 118,686,494 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001104545   ⟹   NP_001098015
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,258,650 - 120,311,461 (-)NCBI
GRCh37X119,392,505 - 119,445,391 (-)RGD
Build 36X119,276,533 - 119,329,419 (-)NCBI Archive
CeleraX119,858,090 - 119,910,982 (-)RGD
HuRefX108,844,953 - 108,897,433 (-)ENTREZGENE
CHM1_1X119,303,796 - 119,356,597 (-)NCBI
T2T-CHM13v2.0X118,633,710 - 118,686,494 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017938   ⟹   NP_060408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,258,650 - 120,311,461 (-)NCBI
GRCh37X119,392,505 - 119,445,391 (-)RGD
Build 36X119,276,533 - 119,329,419 (-)NCBI Archive
CeleraX119,858,090 - 119,910,982 (-)RGD
HuRefX108,844,953 - 108,897,433 (-)ENTREZGENE
CHM1_1X119,303,796 - 119,356,597 (-)NCBI
T2T-CHM13v2.0X118,633,710 - 118,686,494 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029619   ⟹   XP_016885108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,251,433 - 120,311,461 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442231   ⟹   XP_047298187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,268,279 - 120,311,461 (-)NCBI
RefSeq Acc Id: XM_047442232   ⟹   XP_047298188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,268,244 - 120,311,461 (-)NCBI
RefSeq Acc Id: XM_054327342   ⟹   XP_054183317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X118,626,490 - 118,686,494 (-)NCBI
RefSeq Acc Id: XM_054327343   ⟹   XP_054183318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X118,643,340 - 118,686,494 (-)NCBI
RefSeq Acc Id: XM_054327344   ⟹   XP_054183319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X118,643,305 - 118,686,494 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001098015   ⟸   NM_001104545
- Peptide Label: isoform 3
- UniProtKB: Q5JRV8 (UniProtKB/Swiss-Prot),   Q7Z4S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001098014   ⟸   NM_001104544
- Peptide Label: isoform 2
- UniProtKB: Q7Z4S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060408   ⟸   NM_017938
- Peptide Label: isoform 1
- UniProtKB: Q86Y72 (UniProtKB/Swiss-Prot),   E9PAR3 (UniProtKB/Swiss-Prot),   B3KPI6 (UniProtKB/Swiss-Prot),   B1APR4 (UniProtKB/Swiss-Prot),   A8K0W9 (UniProtKB/Swiss-Prot),   Q9NWN8 (UniProtKB/Swiss-Prot),   Q5JRV8 (UniProtKB/Swiss-Prot),   Q7Z4S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885108   ⟸   XM_017029619
- Peptide Label: isoform X1
- UniProtKB: Q7Z4S8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360403   ⟸   ENST00000371352
RefSeq Acc Id: ENSP00000360420   ⟸   ENST00000371369
RefSeq Acc Id: ENSP00000428013   ⟸   ENST00000519908
RefSeq Acc Id: ENSP00000310110   ⟸   ENST00000309720
RefSeq Acc Id: ENSP00000405781   ⟸   ENST00000440464
RefSeq Acc Id: XP_047298188   ⟸   XM_047442232
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047298187   ⟸   XM_047442231
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183317   ⟸   XM_054327342
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183319   ⟸   XM_054327344
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183318   ⟸   XM_054327343
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5JRV8-F1-model_v2 AlphaFold Q5JRV8 1-349 view protein structure

Promoters
RGD ID:6808710
Promoter ID:HG_KWN:67916
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000371352
Position:
Human AssemblyChrPosition (strand)Source
Build 36X119,304,466 - 119,304,966 (-)MPROMDB
RGD ID:6808830
Promoter ID:HG_KWN:67917
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:NM_001104544,   NM_001104545,   NM_017938,   OTTHUMT00000058094
Position:
Human AssemblyChrPosition (strand)Source
Build 36X119,328,881 - 119,329,381 (-)MPROMDB
RGD ID:13627986
Promoter ID:EPDNEW_H29268
Type:initiation region
Name:TMEM255A_1
Description:transmembrane protein 255A
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
GRCh38X120,311,461 - 120,311,521EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26086 AgrOrtholog
COSMIC TMEM255A COSMIC
Ensembl Genes ENSG00000125355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309720 ENTREZGENE
  ENST00000309720.9 UniProtKB/Swiss-Prot
  ENST00000371352.5 UniProtKB/Swiss-Prot
  ENST00000371369 ENTREZGENE
  ENST00000371369.9 UniProtKB/Swiss-Prot
  ENST00000440464 ENTREZGENE
  ENST00000440464.5 UniProtKB/Swiss-Prot
  ENST00000519908 ENTREZGENE
  ENST00000519908.1 UniProtKB/TrEMBL
GTEx ENSG00000125355 GTEx
HGNC ID HGNC:26086 ENTREZGENE
Human Proteome Map TMEM255A Human Proteome Map
InterPro TMEM255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55026 ENTREZGENE
PANTHER PTHR33721 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEIN 255A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671885 PharmGKB
UniProt A8K0W9 ENTREZGENE
  B1APR4 ENTREZGENE
  B3KPI6 ENTREZGENE
  E5RFR0_HUMAN UniProtKB/TrEMBL
  E9PAR3 ENTREZGENE
  Q5JRV8 ENTREZGENE
  Q7Z4S8 ENTREZGENE, UniProtKB/TrEMBL
  Q86Y72 ENTREZGENE
  Q9NWN8 ENTREZGENE
  T255A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K0W9 UniProtKB/Swiss-Prot
  B1APR4 UniProtKB/Swiss-Prot
  B3KPI6 UniProtKB/Swiss-Prot
  E9PAR3 UniProtKB/Swiss-Prot
  Q86Y72 UniProtKB/Swiss-Prot
  Q9NWN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-04 TMEM255A  transmembrane protein 255A  FAM70A  family with sequence similarity 70, member A  Symbol and/or name change 5135510 APPROVED