Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MAGEA9 | Human | urinary bladder cancer | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17290406 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MAGEA9 | Human | urinary bladder cancer | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17290406 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7927540 | PMID:8575766 | PMID:9147653 | PMID:10521804 | PMID:12477932 | PMID:15489334 | PMID:15900605 | PMID:19147576 | PMID:19460752 | PMID:19533752 | PMID:21873635 | PMID:24316396 |
PMID:25315972 | PMID:25400753 | PMID:25416956 | PMID:25445503 | PMID:25755744 | PMID:26717042 | PMID:26766421 | PMID:28339631 | PMID:29138811 | PMID:31515488 | PMID:32879299 | PMID:33961781 |
PMID:36215168 |
MAGEA9 (Homo sapiens - human) |
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Magea9 (Mus musculus - house mouse) |
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Magea9 (Rattus norvegicus - Norway rat) |
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MAGEA9 (Chlorocebus sabaeus - green monkey) |
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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:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 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 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 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 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 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 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 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 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 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:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-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 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 |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 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 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: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: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)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 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 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 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 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 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 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-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 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 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 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 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 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 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: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 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 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 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 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 Xq21.1-28(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 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 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 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 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 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 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 Xq28(chrX:148764419-149015493)x2 | copy number gain | See cases [RCV000203424] | ChrX:148764419..149015493 [GRCh37] ChrX:Xq28 |
likely benign |
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:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-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:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 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:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [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 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [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 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [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: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 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:70297-155246585)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 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-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 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
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 Xq21.1-28(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:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [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 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
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 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 |
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 |
Single allele | duplication | not provided [RCV000677960] | ChrX:148770810..149622233 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq28(chrX:147680249-149682911)x2 | copy number gain | not provided [RCV000684408] | ChrX:147680249..149682911 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:148566841-148875584)x3 | copy number gain | not provided [RCV000684410] | ChrX:148566841..148875584 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq28(chrX:148639911-149404134)x2 | copy number gain | not provided [RCV000684412] | ChrX:148639911..149404134 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 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 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148803804-149139251)x2 | copy number gain | not provided [RCV000753889] | ChrX:148803804..149139251 [GRCh37] ChrX:Xq28 |
benign |
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: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 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
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 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 | copy number loss | See cases [RCV002285075] | ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq24-28(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)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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 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 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148266957-148884123)x2 | copy number gain | not provided [RCV000847530] | ChrX:148266957..148884123 [GRCh37] ChrX:Xq28 |
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 Xq21.1-28(chrX:84387417-155233731)x1 | copy number loss | not provided [RCV001007322] | ChrX:84387417..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 Xq21.33-28(chrX:94264404-155233731)x1 | copy number loss | not provided [RCV001259012] | ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
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 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 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 Xq27.3-28(chrX:142401540-155233731)x1 | copy number loss | See cases [RCV002292203] | ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
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:1-155270560) | copy number gain | 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 | copy number gain | Klinefelter syndrome [RCV002282732] | ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
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 |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 | copy number loss | not provided [RCV003483929] | ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 | copy number loss | not provided [RCV003483930] | ChrX:119071609..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 |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 | copy number loss | not provided [RCV003483936] | ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
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 Xq25-28(chrX:121656905-155233098)x1 | copy number loss | not provided [RCV004442761] | ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 | copy number loss | See cases [RCV004442781] | ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 | copy number gain | not provided [RCV003885530] | ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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: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 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: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 |
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:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-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 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-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 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 Xq23-28(chrX:112474054-155233731)x1 | copy number loss | See cases [RCV000511572] | ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
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 |
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 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
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 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148830590-148895826)x3 | copy number gain | not provided [RCV000753890] | ChrX:148830590..148895826 [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:148848730-149020410)x3 | copy number gain | not provided [RCV000753892] | ChrX:148848730..149020410 [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 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:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-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 |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | not provided [RCV001829212] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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. |
GDB:581728 |
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MAGEA9_8454 |
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SHGC-35638 |
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SGC35637 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 1 | 4 | 1 | 9 | 1 | 3 | 1 | 1 | 6 | 14 | ||||||
Low | 7 | 5 | 4 | 27 | 6 | 6 | 8 | 7 | 3 | 525 | 41 | 1 | ||||
Below cutoff | 303 | 358 | 187 | 35 | 202 | 17 | 581 | 253 | 882 | 23 | 290 | 228 | 18 | 116 | 385 | 1 |
RefSeq Acc Id: | ENST00000243314 ⟹ ENSP00000243314 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000593349 ⟹ ENSP00000472733 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000594744 ⟹ ENSP00000470594 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000595065 ⟹ ENSP00000471017 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000602102 ⟹ ENSP00000469924 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_005365 ⟹ NP_005356 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005262334 ⟹ XP_005262391 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005262335 ⟹ XP_005262392 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024452381 ⟹ XP_024308149 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_024452382 ⟹ XP_024308150 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054327062 ⟹ XP_054183037 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054327063 ⟹ XP_054183038 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_005356 ⟸ NM_005365 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005262392 ⟸ XM_005262335 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005262391 ⟸ XM_005262334 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024308149 ⟸ XM_024452381 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_024308150 ⟸ XM_024452382 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000243314 ⟸ ENST00000243314 |
RefSeq Acc Id: | XP_054183038 ⟸ XM_054327063 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054183037 ⟸ XM_054327062 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z5K4 (UniProtKB/Swiss-Prot), P43362 (UniProtKB/Swiss-Prot), A8K8A7 (UniProtKB/Swiss-Prot), Q92910 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSP00000470594 ⟸ ENST00000594744 |
RefSeq Acc Id: | ENSP00000469924 ⟸ ENST00000602102 |
RefSeq Acc Id: | ENSP00000471017 ⟸ ENST00000595065 |
RefSeq Acc Id: | ENSP00000472733 ⟸ ENST00000593349 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P43362-F1-model_v2 | AlphaFold | P43362 | 1-315 | view protein structure |
RGD ID: | 13628318 | ||||||||
Promoter ID: | EPDNEW_H29434 | ||||||||
Type: | initiation region | ||||||||
Name: | MAGEA9_1 | ||||||||
Description: | MAGE family member A9 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:6807 | AgrOrtholog |
COSMIC | MAGEA9 | COSMIC |
Ensembl Genes | ENSG00000123584 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000267978 | Ensembl, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000243314 | ENTREZGENE |
ENST00000243314.5 | UniProtKB/Swiss-Prot | |
ENST00000595065.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.10.1200 | UniProtKB/Swiss-Prot |
1.10.10.1210 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000123584 | GTEx |
ENSG00000267978 | GTEx | |
HGNC ID | HGNC:6807 | ENTREZGENE |
Human Proteome Map | MAGEA9 | Human Proteome Map |
InterPro | MAGE | UniProtKB/Swiss-Prot |
MAGE_N | UniProtKB/Swiss-Prot | |
MAGE_WH1 | UniProtKB/Swiss-Prot | |
MAGE_WH2 | UniProtKB/Swiss-Prot | |
MHD_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:4108 | UniProtKB/Swiss-Prot |
hsa:728269 | UniProtKB/Swiss-Prot | |
NCBI Gene | 4108 | ENTREZGENE |
OMIM | 300342 | OMIM |
PANTHER | PTHR11736 | UniProtKB/Swiss-Prot |
PTHR11736:SF62 | UniProtKB/Swiss-Prot | |
Pfam | MAGE | UniProtKB/Swiss-Prot |
MAGE_N | UniProtKB/Swiss-Prot | |
PharmGKB | PA30553 | PharmGKB |
PROSITE | MAGE | UniProtKB/Swiss-Prot |
SMART | MAGE | UniProtKB/Swiss-Prot |
MAGE_N | UniProtKB/Swiss-Prot | |
UniProt | A8K8A7 | ENTREZGENE |
MAGA9_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q7Z5K4 | ENTREZGENE | |
Q92910 | ENTREZGENE | |
UniProt Secondary | A8K8A7 | UniProtKB/Swiss-Prot |
Q7Z5K4 | UniProtKB/Swiss-Prot | |
Q92910 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-08 | MAGEA9 | MAGE family member A9 | MAGEA9 | melanoma antigen family A9 | Symbol and/or name change | 5135510 | APPROVED |
2015-02-10 | MAGEA9 | melanoma antigen family A9 | MAGEA9 | melanoma antigen family A, 9 | Symbol and/or name change | 5135510 | APPROVED |