EOLA2 (endothelium and lymphocyte associated ASCH domain 2) - Rat Genome Database

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Gene: EOLA2 (endothelium and lymphocyte associated ASCH domain 2) Homo sapiens
Analyze
Symbol: EOLA2
Name: endothelium and lymphocyte associated ASCH domain 2
RGD ID: 1604879
HGNC Page HGNC:17402
Description: ASSOCIATED WITH Autism; autistic disorder; syndromic X-linked intellectual disability Lubs type; INTERACTS WITH (+)-catechin; benzo[a]pyrene; cadmium atom
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: chromosome X open reading frame 40B; CXorf40B
RGD Orthologs
Rat
Bonobo
Squirrel
Green Monkey
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
GRCh38X149,929,532 - 149,938,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX149,929,527 - 149,938,700 (-)EnsemblGRCh38hg38GRCh38
GRCh37X149,100,415 - 149,106,709 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,851,073 - 148,857,374 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX149,351,614 - 149,351,919 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX137,971,130 - 137,971,438 (-)NCBIHuRef
CHM1_1X148,974,755 - 148,981,056 (-)NCBICHM1_1
T2T-CHM13v2.0X148,191,783 - 148,206,745 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8717057   PMID:9147653   PMID:12477932   PMID:15489334   PMID:15772651   PMID:16341674  


Genomics

Comparative Map Data
EOLA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X149,929,532 - 149,938,491 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX149,929,527 - 149,938,700 (-)EnsemblGRCh38hg38GRCh38
GRCh37X149,100,415 - 149,106,709 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,851,073 - 148,857,374 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX149,351,614 - 149,351,919 (-)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX137,971,130 - 137,971,438 (-)NCBIHuRef
CHM1_1X148,974,755 - 148,981,056 (-)NCBICHM1_1
T2T-CHM13v2.0X148,191,783 - 148,206,745 (-)NCBIT2T-CHM13v2.0
Eola2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X154,108,628 - 154,113,426 (+)NCBIGRCr8
mRatBN7.2X149,064,015 - 149,068,627 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX149,064,041 - 149,068,627 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX151,258,277 - 151,261,793 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X154,792,460 - 154,795,976 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X152,334,022 - 152,337,538 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0869,484,134 - 69,488,998 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl869,484,174 - 69,489,891 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0869,192,972 - 69,197,698 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X156,620,142 - 156,623,658 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1132,341,858 - 132,345,374 (-)NCBICelera
Cytogenetic MapXq37NCBI
EOLA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X150,060,911 - 150,074,774 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X150,069,781 - 150,078,382 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X139,577,979 - 139,587,917 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X149,508,737 - 149,523,459 (-)NCBIpanpan1.1PanPan1.1panPan2
Eola2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X115,798,966 - 115,809,226 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049367142,447,289 - 2,453,417 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EOLA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X124,529,014 - 124,543,153 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606562,220,348 - 62,234,690 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0


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)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: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: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 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
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 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:149722144-150242706)x2 copy number gain See cases [RCV000052489] ChrX:149722144..150242706 [GRCh38]
ChrX:148603335..149161588 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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
GRCh38/hg38 Xq28(chrX:149570094-150326225)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054285]|See cases [RCV000054285] ChrX:149570094..150326225 [GRCh38]
ChrX:148459544..149245119 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:149722144-150079450)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054286]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054286]|See cases [RCV000054286] ChrX:149722144..150079450 [GRCh38]
ChrX:148603535..148998339 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28
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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
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 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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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 Xq28(chrX:149570094-150079450)x3 copy number gain See cases [RCV000137090] ChrX:149570094..150079450 [GRCh38]
ChrX:148459544..148998339 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:149722144-150326225)x3 copy number gain See cases [RCV000136897] ChrX:149722144..150326225 [GRCh38]
ChrX:148956425..149494461 [GRCh37]
ChrX:148603535..149245119 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:149804813-150311286)x4 copy number gain See cases [RCV000137312] ChrX:149804813..150311286 [GRCh38]
ChrX:148956425..149479522 [GRCh37]
ChrX:148694272..149230180 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 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 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 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 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 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 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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
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 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 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 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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
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: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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
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 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication not provided [RCV000677960] ChrX:148770810..149622233 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:147680249-149682911)x2 copy number gain not provided [RCV000684408] ChrX:147680249..149682911 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148639911-149404134)x2 copy number gain not provided [RCV000684412] ChrX:148639911..149404134 [GRCh37]
ChrX:Xq28
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 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:148803804-149139251)x2 copy number gain not provided [RCV000753889] ChrX:148803804..149139251 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:148842873-149108301)x3 copy number gain not provided [RCV000753891] ChrX:148842873..149108301 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:148848730-149106148)x2 copy number gain not provided [RCV000753893] ChrX:148848730..149106148 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq28(chrX:148882560-149686856)x2 copy number gain Moyamoya disease [RCV001095365] ChrX:148882560..149686856 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
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 Xq28(chrX:149028747-149519123)x2 copy number gain not provided [RCV000848880] ChrX:149028747..149519123 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely 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 Xq28(chrX:148972739-149446095)x3 copy number gain not provided [RCV001007361] ChrX:148972739..149446095 [GRCh37]
ChrX:Xq28
likely benign
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 Xq27.1-28(chrX:139484271-149442579)x1 copy number loss not provided [RCV001537895] ChrX:139484271..149442579 [GRCh37]
ChrX:Xq27.1-28
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 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 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
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1 copy number loss Mucopolysaccharidosis, MPS-II [RCV001733885] ChrX:145728205..150464413 [GRCh38]
ChrX:Xq27.3-28
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 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253) copy number loss not specified [RCV002053195] ChrX:146752853..150192253 [GRCh37]
ChrX:Xq27.3-28
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [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 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
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 Xq27.1-28(chrX:139504564-149382013)x2 copy number gain not provided [RCV002472498] ChrX:139504564..149382013 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_001013845.2(EOLA2):c.82C>T (p.Arg28Cys) single nucleotide variant not provided [RCV003432509] ChrX:149933793 [GRCh38]
ChrX:149102011 [GRCh37]
ChrX:Xq28
likely benign
NM_001013845.2(EOLA2):c.396G>A (p.Glu132=) single nucleotide variant not provided [RCV003432507] ChrX:149932625 [GRCh38]
ChrX:149100843 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:148782000-149715472)x3 copy number gain not provided [RCV003485331] ChrX:148782000..149715472 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001013845.2(EOLA2):c.399C>T (p.Pro133=) single nucleotide variant not provided [RCV003432506] ChrX:149932622 [GRCh38]
ChrX:149100840 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28
pathogenic
NM_001351114.2(HSFX4):c.939C>T (p.Tyr313=) single nucleotide variant not provided [RCV003432505] ChrX:149931042 [GRCh38]
ChrX:149099260 [GRCh37]
ChrX:Xq28
likely benign
NM_001351114.2(HSFX4):c.306C>T (p.Asn102=) single nucleotide variant not provided [RCV003432504] ChrX:149929950 [GRCh38]
ChrX:149098168 [GRCh37]
ChrX:Xq28
likely benign
NM_001013845.2(EOLA2):c.315G>A (p.Val105=) single nucleotide variant not provided [RCV003432508] ChrX:149932706 [GRCh38]
ChrX:149100924 [GRCh37]
ChrX:Xq28
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1520
Count of miRNA genes:757
Interacting mature miRNAs:855
Transcripts:ENST00000355203, ENST00000370404, ENST00000370406, ENST00000370409, ENST00000462691, ENST00000483447, ENST00000497550
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH16561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,534 - 149,100,802UniSTSGRCh37
GRCh37X148,628,468 - 148,628,736UniSTSGRCh37
Build 36X148,436,373 - 148,436,641RGDNCBI36
CeleraX148,977,185 - 148,977,453RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,869 - 137,582,137UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
WI-11260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,434 - 149,100,564UniSTSGRCh37
GRCh37X148,628,706 - 148,628,836UniSTSGRCh37
Build 36X148,436,611 - 148,436,741RGDNCBI36
CeleraX148,977,423 - 148,977,553RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,107 - 137,582,237UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
Whitehead-RH MapX314.8UniSTS
RH103556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,097,890 - 149,098,036UniSTSGRCh37
GRCh37X148,631,224 - 148,631,370UniSTSGRCh37
Build 36X148,439,130 - 148,439,276RGDNCBI36
CeleraX148,979,942 - 148,980,088RGD
Cytogenetic MapXq28UniSTS
HuRefX137,585,120 - 137,585,266UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
WI-15826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,439 - 149,100,564UniSTSGRCh37
GRCh37X148,628,706 - 148,628,831UniSTSGRCh37
Build 36X148,436,611 - 148,436,736RGDNCBI36
CeleraX148,977,423 - 148,977,548RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,107 - 137,582,232UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
Whitehead-RH MapX314.8UniSTS
NCBI RH MapX733.4UniSTS
G20875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,510 - 149,100,686UniSTSGRCh37
GRCh37X148,628,584 - 148,628,760UniSTSGRCh37
Build 36X148,436,489 - 148,436,665RGDNCBI36
CeleraX148,977,301 - 148,977,477RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,985 - 137,582,161UniSTS
A006J30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,510 - 149,100,686UniSTSGRCh37
GRCh37X148,628,584 - 148,628,760UniSTSGRCh37
Build 36X148,436,489 - 148,436,665RGDNCBI36
CeleraX148,977,301 - 148,977,477RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,985 - 137,582,161UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
NIB220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,457 - 149,100,612UniSTSGRCh37
GRCh37X148,628,658 - 148,628,813UniSTSGRCh37
Build 36X148,436,563 - 148,436,718RGDNCBI36
CeleraX148,977,375 - 148,977,530RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,059 - 137,582,214UniSTS
Stanford-G3 RH MapX4302.0UniSTS
GeneMap99-G3 RH MapX4451.0UniSTS


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 2359 2026 1549 457 1343 301 3683 1193 2538 369 1435 1603 170 1 1191 2118 5 2
Low 80 965 177 167 608 164 674 1004 1196 50 25 8 5 13 670 1
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001013845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM847839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX927209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L43575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L43578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000355203   ⟹   ENSP00000347339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,932,198 - 149,937,514 (-)Ensembl
RefSeq Acc Id: ENST00000370404   ⟹   ENSP00000359432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,932,201 - 149,938,459 (-)Ensembl
RefSeq Acc Id: ENST00000370406   ⟹   ENSP00000359434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,932,197 - 149,938,491 (-)Ensembl
RefSeq Acc Id: ENST00000370409   ⟹   ENSP00000474324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,932,579 - 149,938,472 (-)Ensembl
RefSeq Acc Id: ENST00000462691   ⟹   ENSP00000417546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,929,527 - 149,938,435 (-)Ensembl
RefSeq Acc Id: ENST00000483447   ⟹   ENSP00000474715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,933,738 - 149,938,461 (-)Ensembl
RefSeq Acc Id: ENST00000497550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX149,937,449 - 149,938,700 (-)Ensembl
RefSeq Acc Id: NM_001013845   ⟹   NP_001013867
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
GRCh37X149,100,415 - 149,106,716 (-)RGD
Build 36X148,851,073 - 148,857,374 (-)NCBI Archive
CeleraX149,351,614 - 149,351,919 (-)RGD
HuRefX137,971,130 - 137,971,438 (-)NCBI
CHM1_1X148,974,755 - 148,981,056 (-)NCBI
T2T-CHM13v2.0X148,199,823 - 148,206,117 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274698   ⟹   XP_005274755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274699   ⟹   XP_005274756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274700   ⟹   XP_005274757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274701   ⟹   XP_005274758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274702   ⟹   XP_005274759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724826   ⟹   XP_006724889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531180   ⟹   XP_011529482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531181   ⟹   XP_011529483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029585   ⟹   XP_016885074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029588   ⟹   XP_016885077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029589   ⟹   XP_016885078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029591   ⟹   XP_016885080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029592   ⟹   XP_016885081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029593   ⟹   XP_016885082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452391   ⟹   XP_024308159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442174   ⟹   XP_047298130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
RefSeq Acc Id: XM_047442175   ⟹   XP_047298131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,938,491 (-)NCBI
RefSeq Acc Id: XM_047442176   ⟹   XP_047298132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,932,197 - 149,935,485 (-)NCBI
RefSeq Acc Id: XM_047442177   ⟹   XP_047298133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
RefSeq Acc Id: XM_047442178   ⟹   XP_047298134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
RefSeq Acc Id: XM_047442179   ⟹   XP_047298135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,929,532 - 149,938,491 (-)NCBI
RefSeq Acc Id: XM_054327222   ⟹   XP_054183197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327223   ⟹   XP_054183198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,117 (-)NCBI
RefSeq Acc Id: XM_054327224   ⟹   XP_054183199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327225   ⟹   XP_054183200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327226   ⟹   XP_054183201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,117 (-)NCBI
RefSeq Acc Id: XM_054327227   ⟹   XP_054183202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327228   ⟹   XP_054183203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327229   ⟹   XP_054183204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,431 (-)NCBI
RefSeq Acc Id: XM_054327230   ⟹   XP_054183205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327231   ⟹   XP_054183206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,431 (-)NCBI
RefSeq Acc Id: XM_054327232   ⟹   XP_054183207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,203,111 (-)NCBI
RefSeq Acc Id: XM_054327233   ⟹   XP_054183208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,745 (-)NCBI
RefSeq Acc Id: XM_054327234   ⟹   XP_054183209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327235   ⟹   XP_054183210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,205,761 (-)NCBI
RefSeq Acc Id: XM_054327236   ⟹   XP_054183211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,199,823 - 148,205,761 (-)NCBI
RefSeq Acc Id: XM_054327237   ⟹   XP_054183212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,117 (-)NCBI
RefSeq Acc Id: XM_054327238   ⟹   XP_054183213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327239   ⟹   XP_054183214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,117 (-)NCBI
RefSeq Acc Id: XM_054327240   ⟹   XP_054183215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327241   ⟹   XP_054183216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,471 (-)NCBI
RefSeq Acc Id: XM_054327242   ⟹   XP_054183217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,117 (-)NCBI
RefSeq Acc Id: XM_054327243   ⟹   XP_054183218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,435 (-)NCBI
RefSeq Acc Id: XM_054327244   ⟹   XP_054183219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X148,191,783 - 148,206,435 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001013867 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274755 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274756 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274757 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274758 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274759 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724889 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529482 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529483 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885074 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885077 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885078 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885080 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885082 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308159 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298130 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298131 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298132 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298133 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047298135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183215 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183219 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09523 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347339
  ENSP00000347339.2
  ENSP00000359432
  ENSP00000359432.1
  ENSP00000359434
  ENSP00000359434.3
  ENSP00000417546
  ENSP00000417546.1
  ENSP00000474324
  ENSP00000474324.1
  ENSP00000474715.1
GenBank Protein Q96DE9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001013867   ⟸   NM_001013845
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274757   ⟸   XM_005274700
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274755   ⟸   XM_005274698
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274756   ⟸   XM_005274699
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274759   ⟸   XM_005274702
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724889   ⟸   XM_006724826
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274758   ⟸   XM_005274701
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529483   ⟸   XM_011531181
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529482   ⟸   XM_011531180
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885082   ⟸   XM_017029593
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885081   ⟸   XM_017029592
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885080   ⟸   XM_017029591
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885074   ⟸   XM_017029585
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885077   ⟸   XM_017029588
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885078   ⟸   XM_017029589
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308159   ⟸   XM_024452391
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417546   ⟸   ENST00000462691
RefSeq Acc Id: ENSP00000359432   ⟸   ENST00000370404
RefSeq Acc Id: ENSP00000359434   ⟸   ENST00000370406
RefSeq Acc Id: ENSP00000474324   ⟸   ENST00000370409
RefSeq Acc Id: ENSP00000474715   ⟸   ENST00000483447
RefSeq Acc Id: ENSP00000347339   ⟸   ENST00000355203
RefSeq Acc Id: XP_047298135   ⟸   XM_047442179
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298134   ⟸   XM_047442178
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298133   ⟸   XM_047442177
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298130   ⟸   XM_047442174
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298131   ⟸   XM_047442175
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298132   ⟸   XM_047442176
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183216   ⟸   XM_054327241
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183213   ⟸   XM_054327238
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183215   ⟸   XM_054327240
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183218   ⟸   XM_054327243
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183219   ⟸   XM_054327244
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183212   ⟸   XM_054327237
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183217   ⟸   XM_054327242
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183214   ⟸   XM_054327239
- Peptide Label: isoform X2
- UniProtKB: Q5HY62 (UniProtKB/TrEMBL),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183208   ⟸   XM_054327233
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183197   ⟸   XM_054327222
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183202   ⟸   XM_054327227
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183200   ⟸   XM_054327225
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183203   ⟸   XM_054327228
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183209   ⟸   XM_054327234
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183199   ⟸   XM_054327224
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183205   ⟸   XM_054327230
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183204   ⟸   XM_054327229
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183206   ⟸   XM_054327231
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183201   ⟸   XM_054327226
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183198   ⟸   XM_054327223
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183211   ⟸   XM_054327236
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183210   ⟸   XM_054327235
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183207   ⟸   XM_054327232
- Peptide Label: isoform X1
- UniProtKB: Q96DE9 (UniProtKB/Swiss-Prot),   S4R3G8 (UniProtKB/TrEMBL)
Protein Domains
ASCH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96DE9-F1-model_v2 AlphaFold Q96DE9 1-158 view protein structure

Promoters
RGD ID:6808613
Promoter ID:HG_KWN:68397
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370404,   OTTHUMT00000082896,   OTTHUMT00000082899,   OTTHUMT00000082900,   OTTHUMT00000083080,   UC004FDZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,857,276 - 148,858,442 (-)MPROMDB
RGD ID:13628322
Promoter ID:EPDNEW_H29436
Type:initiation region
Name:CXorf40B_1
Description:chromosome X open reading frame 40B
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
GRCh38X149,938,474 - 149,938,534EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17402 AgrOrtholog
COSMIC EOLA2 COSMIC
Ensembl Genes ENSG00000197021 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355203 ENTREZGENE
  ENST00000355203.6 UniProtKB/Swiss-Prot
  ENST00000370404 ENTREZGENE
  ENST00000370404.5 UniProtKB/Swiss-Prot
  ENST00000370406 ENTREZGENE
  ENST00000370406.8 UniProtKB/Swiss-Prot
  ENST00000370409 ENTREZGENE
  ENST00000370409.7 UniProtKB/TrEMBL
  ENST00000462691 ENTREZGENE
  ENST00000462691.5 UniProtKB/TrEMBL
  ENST00000483447.1 UniProtKB/TrEMBL
Gene3D-CATH Hypothetical protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197021 GTEx
HGNC ID HGNC:17402 ENTREZGENE
Human Proteome Map EOLA2 Human Proteome Map
InterPro ASCH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CXorf40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:541578 UniProtKB/Swiss-Prot
NCBI Gene 541578 ENTREZGENE
PANTHER PROTEIN EOLA1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ASCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF88697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CX04B_HUMAN UniProtKB/Swiss-Prot
  Q5HY62 ENTREZGENE, UniProtKB/TrEMBL
  Q96DE9 ENTREZGENE
  S4R3G8 ENTREZGENE, UniProtKB/TrEMBL
  S4R3T8_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-05 EOLA2  endothelium and lymphocyte associated ASCH domain 2  CXorf40B  chromosome X open reading frame 40B  Symbol and/or name change 5135510 APPROVED