Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ACOT9 | Human | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ACOT9 | Human | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10383425 | PMID:10810093 | PMID:12477932 | PMID:14702039 | PMID:16103133 | PMID:20186120 | PMID:20360068 | PMID:21873635 | PMID:21946561 | PMID:22114354 | PMID:22268729 | PMID:22323290 |
PMID:23473034 | PMID:23956138 | PMID:24797263 | PMID:25582440 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:26638075 | PMID:26687479 | PMID:27432908 | PMID:27684187 | PMID:28380382 |
PMID:28514442 | PMID:28515276 | PMID:28718761 | PMID:29111377 | PMID:29117863 | PMID:29128334 | PMID:29509190 | PMID:29568061 | PMID:29802200 | PMID:30455355 | PMID:30463901 | PMID:30575818 |
PMID:30940648 | PMID:31091453 | PMID:31332168 | PMID:31343991 | PMID:31536960 | PMID:31586073 | PMID:31871319 | PMID:31980649 | PMID:32060556 | PMID:32203420 | PMID:32344865 | PMID:32457219 |
PMID:32628020 | PMID:32707033 | PMID:32807901 | PMID:32877691 | PMID:33022573 | PMID:33060197 | PMID:33106477 | PMID:33462405 | PMID:33567341 | PMID:33961781 | PMID:34029587 | PMID:34079125 |
PMID:34709727 | PMID:34800366 | PMID:35007762 | PMID:35063084 | PMID:35241646 | PMID:35256949 | PMID:35271311 | PMID:35384245 | PMID:35439318 | PMID:35509820 | PMID:35559673 | PMID:35563538 |
PMID:35676659 | PMID:35831314 | PMID:35944360 | PMID:36114006 | PMID:36215168 | PMID:36232890 | PMID:36526897 | PMID:36736316 | PMID:37071682 | PMID:37117180 | PMID:37120454 | PMID:37689310 |
PMID:37827155 | PMID:38113892 | PMID:38569033 | PMID:38777146 | PMID:38803224 | PMID:39098523 |
ACOT9 (Homo sapiens - human) |
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Acot9 (Mus musculus - house mouse) |
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Acot9 (Rattus norvegicus - Norway rat) |
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Acot9 (Chinchilla lanigera - long-tailed chinchilla) |
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ACOT9 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ACOT9 (Canis lupus familiaris - dog) |
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Acot9 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ACOT9 (Sus scrofa - pig) |
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ACOT9 (Chlorocebus sabaeus - green monkey) |
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Acot9 (Heterocephalus glaber - naked mole-rat) |
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Variants in ACOT9
19 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 | copy number loss | See cases [RCV000051026] | ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 | copy number gain | See cases [RCV000052328] | ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 | copy number loss | See cases [RCV000053063] | ChrX:22420237..38834728 [GRCh38] ChrX:22438354..38693981 [GRCh37] ChrX:22348275..38578925 [NCBI36] ChrX:Xp22.11-11.4 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 | copy number loss | See cases [RCV000052981] | ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 | copy number loss | See cases [RCV000053007] | ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 | copy number loss | See cases [RCV000052990] | ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 | copy number loss | See cases [RCV000052994] | ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] | ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 | copy number gain | See cases [RCV000053817] | ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 | copy number loss | See cases [RCV000133817] | ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10679-50059388)x1 | copy number loss | See cases [RCV000133745] | ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 | copy number loss | See cases [RCV000134568] | ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 | copy number loss | See cases [RCV000134026] | ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 | copy number loss | See cases [RCV000135305] | ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 | copy number loss | See cases [RCV000135299] | ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 | copy number gain | See cases [RCV000134875] | ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 | copy number gain | See cases [RCV000134957] | ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 | copy number loss | See cases [RCV000135551] | ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 | copy number loss | See cases [RCV000137112] | ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 | copy number loss | See cases [RCV000137430] | ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 | copy number loss | See cases [RCV000137552] | ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 | copy number loss | See cases [RCV000137413] | ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 | copy number loss | See cases [RCV000137166] | ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 | copy number gain | See cases [RCV000137137] | ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 | copy number loss | See cases [RCV000138069] | ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 | copy number loss | See cases [RCV000138019] | ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 | copy number loss | See cases [RCV000139343] | ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 | copy number gain | See cases [RCV000141261] | ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 | copy number loss | See cases [RCV000140711] | ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 | copy number loss | See cases [RCV000141741] | ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 | copy number loss | See cases [RCV000142334] | ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 | copy number loss | See cases [RCV000142035] | ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 | copy number loss | See cases [RCV000143348] | ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 | copy number loss | See cases [RCV000143130] | ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 | copy number loss | See cases [RCV000143496] | ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
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 Xp22.11(chrX:23693142-24483640)x2 | copy number gain | See cases [RCV000240160] | ChrX:23693142..24483640 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 | copy number loss | See cases [RCV000239814] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 | copy number gain | See cases [RCV000239834] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-21.1(chrX:71267-35809046)x1 | copy number loss | See cases [RCV000240335] | ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 | copy number gain | See cases [RCV000240441] | ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [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 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 | copy number loss | not provided [RCV000753275] | ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 | copy number loss | not provided [RCV000753273] | ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 | copy number gain | See cases [RCV000449393] | ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 | copy number loss | See cases [RCV000446584] | ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 | copy number loss | See cases [RCV000447092] | ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 | copy number loss | See cases [RCV000447470] | ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 | copy number loss | See cases [RCV000447773] | ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 | copy number loss | See cases [RCV000512136] | ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 | copy number loss | See cases [RCV000510590] | ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 | copy number loss | See cases [RCV000510308] | ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 | copy number loss | See cases [RCV000510437] | ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 | copy number loss | See cases [RCV000511615] | ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 | copy number loss | See cases [RCV000512022] | ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 | copy number loss | See cases [RCV000511350] | ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 | copy number gain | See cases [RCV000511443] | ChrX:15290524..29747172 [GRCh37] ChrX:Xp22.2-21.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 | copy number loss | See cases [RCV000510822] | ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) | copy number gain | not provided [RCV000767802] | ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 | copy number gain | See cases [RCV000512204] | ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) | copy number loss | See cases [RCV000512142] | ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 | copy number loss | See cases [RCV000512339] | ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 | copy number loss | not provided [RCV000684183] | ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3 | copy number gain | not provided [RCV000684291] | ChrX:23371361..25493197 [GRCh37] ChrX:Xp22.11-21.3 |
uncertain significance |
GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2 | copy number gain | not provided [RCV000684292] | ChrX:23373804..24332336 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 | copy number loss | not provided [RCV000684184] | ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.11(chrX:23550048-23825483)x3 | copy number gain | not provided [RCV000684293] | ChrX:23550048..23825483 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 | copy number loss | not provided [RCV000684185] | ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 | copy number loss | not provided [RCV000753274] | ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001037171.2(ACOT9):c.593A>G (p.His198Arg) | single nucleotide variant | not provided [RCV001572846] | ChrX:23713204 [GRCh38] ChrX:23731321 [GRCh37] ChrX:Xp22.11 |
likely benign |
GRCh37/hg19 Xp22.11(chrX:23468592-24018058)x2 | copy number gain | not provided [RCV000753427] | ChrX:23468592..24018058 [GRCh37] ChrX:Xp22.11 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [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 Xp22.33-11.22(chrX:60814-50519984)x1 | copy number loss | See cases [RCV000790583] | ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001037171.2(ACOT9):c.105C>A (p.Phe35Leu) | single nucleotide variant | not specified [RCV004295868] | ChrX:23735932 [GRCh38] ChrX:23754049 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
Single allele | deletion | Neurodevelopmental disorder [RCV000787440] | ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 | copy number loss | not provided [RCV000845671] | ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 | copy number loss | not provided [RCV001007559] | ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 | copy number loss | not provided [RCV000847678] | ChrX:20925922..35511818 [GRCh37] ChrX:Xp22.12-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 | copy number loss | not provided [RCV000846273] | ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 | copy number gain | not provided [RCV000849574] | ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 | copy number loss | not provided [RCV001007224] | ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.11(chrX:23520221-23914068)x2 | copy number gain | not provided [RCV001007275] | ChrX:23520221..23914068 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 | copy number loss | See cases [RCV001263061] | ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele | complex | Turner syndrome [RCV002280670] | ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) | copy number loss | Turner syndrome [RCV002280671] | ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) | copy number loss | Turner syndrome [RCV002280669] | ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 | copy number loss | not provided [RCV001281358] | ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 | copy number loss | not provided [RCV001537933] | ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV001834509] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.11-21.2(chrX:23105194-31458625) | copy number gain | not specified [RCV002052790] | ChrX:23105194..31458625 [GRCh37] ChrX:Xp22.11-21.2 |
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 |
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 |
NM_001037171.2(ACOT9):c.396G>T (p.Leu132Phe) | single nucleotide variant | not specified [RCV004308728] | ChrX:23730531 [GRCh38] ChrX:23748648 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001037171.2(ACOT9):c.680C>T (p.Pro227Leu) | single nucleotide variant | not specified [RCV004197112] | ChrX:23707927 [GRCh38] ChrX:23726044 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.883G>A (p.Val295Met) | single nucleotide variant | not specified [RCV004171081] | ChrX:23705818 [GRCh38] ChrX:23723935 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.610C>T (p.Pro204Ser) | single nucleotide variant | not specified [RCV004127786] | ChrX:23713187 [GRCh38] ChrX:23731304 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.457A>G (p.Ile153Val) | single nucleotide variant | not specified [RCV004228967] | ChrX:23722697 [GRCh38] ChrX:23740814 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.1313C>T (p.Ala438Val) | single nucleotide variant | not provided [RCV003434658]|not specified [RCV004199892] | ChrX:23703928 [GRCh38] ChrX:23722045 [GRCh37] ChrX:Xp22.11 |
likely benign |
NM_001037171.2(ACOT9):c.279G>C (p.Lys93Asn) | single nucleotide variant | not specified [RCV004165829] | ChrX:23730899 [GRCh38] ChrX:23749016 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.1204T>A (p.Phe402Ile) | single nucleotide variant | not specified [RCV004105185] | ChrX:23704748 [GRCh38] ChrX:23722865 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.329G>A (p.Arg110Gln) | single nucleotide variant | not specified [RCV004203956] | ChrX:23730849 [GRCh38] ChrX:23748966 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.1130A>G (p.Tyr377Cys) | single nucleotide variant | not specified [RCV004120577] | ChrX:23704822 [GRCh38] ChrX:23722939 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.536A>G (p.His179Arg) | single nucleotide variant | not specified [RCV004255587] | ChrX:23721933 [GRCh38] ChrX:23740050 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3 | copy number gain | Polymicrogyria [RCV003327710] | ChrX:23730430..32849918 [GRCh38] ChrX:Xp22.11-21.1 |
pathogenic |
NM_001037171.2(ACOT9):c.950A>G (p.Asn317Ser) | single nucleotide variant | not specified [RCV004359762] | ChrX:23705578 [GRCh38] ChrX:23723695 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 | copy number loss | not provided [RCV003483407] | ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001037171.2(ACOT9):c.845C>T (p.Thr282Ile) | single nucleotide variant | not provided [RCV003430451] | ChrX:23705856 [GRCh38] ChrX:23723973 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.11(chrX:23080577-23874609)x3 | copy number gain | not provided [RCV003485280] | ChrX:23080577..23874609 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 | copy number gain | not provided [RCV003483939] | ChrX:168547..30774453 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
NM_001037171.2(ACOT9):c.1105C>G (p.Gln369Glu) | single nucleotide variant | not provided [RCV003430450] | ChrX:23704995 [GRCh38] ChrX:23723112 [GRCh37] ChrX:Xp22.11 |
likely benign |
NM_001037171.2(ACOT9):c.730+5A>G | single nucleotide variant | not provided [RCV003430452] | ChrX:23707872 [GRCh38] ChrX:23725989 [GRCh37] ChrX:Xp22.11 |
likely benign |
NM_001037171.2(ACOT9):c.1332C>T (p.Tyr444=) | single nucleotide variant | not provided [RCV003430449] | ChrX:23703909 [GRCh38] ChrX:23722026 [GRCh37] ChrX:Xp22.11 |
likely benign |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) | copy number loss | not specified [RCV003986240] | ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) | copy number loss | not specified [RCV003986200] | ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001037171.2(ACOT9):c.515A>G (p.Gln172Arg) | single nucleotide variant | not specified [RCV004432481] | ChrX:23721954 [GRCh38] ChrX:23740071 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 | copy number gain | Klinefelter syndrome [RCV004579655] | ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
NM_001037171.2(ACOT9):c.358G>A (p.Val120Ile) | single nucleotide variant | not specified [RCV004604163] | ChrX:23730820 [GRCh38] ChrX:23748937 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
NM_001037171.2(ACOT9):c.764C>T (p.Thr255Met) | single nucleotide variant | not specified [RCV004604168] | ChrX:23706706 [GRCh38] ChrX:23724823 [GRCh37] ChrX:Xp22.11 |
uncertain significance |
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. |
STS-W05354 |
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GDB:434012 |
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D1S1423 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2252 | 4974 | 1726 | 2351 | 6 | 624 | 1950 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_016780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001033583 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001037171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001330259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC093011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC131011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF132950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF241787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK024337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL548456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000336430 ⟹ ENSP00000336580 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000379295 ⟹ ENSP00000368597 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000379297 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000379303 ⟹ ENSP00000368605 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000449612 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000473710 ⟹ ENSP00000420490 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000492081 ⟹ ENSP00000417778 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000494361 ⟹ ENSP00000420238 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001033583 ⟹ NP_001028755 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001037171 ⟹ NP_001032248 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001330259 ⟹ NP_001317188 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
Protein RefSeqs | NP_001028755 | (Get FASTA) | NCBI Sequence Viewer |
NP_001032248 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001317188 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD27725 | (Get FASTA) | NCBI Sequence Viewer |
AAG44475 | (Get FASTA) | NCBI Sequence Viewer | |
AAH12573 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36672 | (Get FASTA) | NCBI Sequence Viewer | |
AAI44361 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51291 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98997 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98998 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000336580 | ||
ENSP00000336580.7 | |||
ENSP00000368597 | |||
ENSP00000368597.1 | |||
ENSP00000368605 | |||
ENSP00000368605.5 | |||
ENSP00000417778.1 | |||
ENSP00000420238.1 | |||
ENSP00000420490.1 | |||
GenBank Protein | Q9Y305 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001028755 ⟸ NM_001033583 |
- Peptide Label: | isoform b precursor |
- UniProtKB: | B3KNC9 (UniProtKB/Swiss-Prot), B7ZM94 (UniProtKB/Swiss-Prot), Q9Y305 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001032248 ⟸ NM_001037171 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q9Y305 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001317188 ⟸ NM_001330259 |
- Peptide Label: | isoform c |
- UniProtKB: | Q9Y305 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000417778 ⟸ ENST00000492081 |
Ensembl Acc Id: | ENSP00000336580 ⟸ ENST00000336430 |
Ensembl Acc Id: | ENSP00000420238 ⟸ ENST00000494361 |
Ensembl Acc Id: | ENSP00000368597 ⟸ ENST00000379295 |
Ensembl Acc Id: | ENSP00000368605 ⟸ ENST00000379303 |
Ensembl Acc Id: | ENSP00000420490 ⟸ ENST00000473710 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y305-F1-model_v2 | AlphaFold | Q9Y305 | 1-439 | view protein structure |
RGD ID: | 6808460 | ||||||||
Promoter ID: | HG_KWN:66251 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001033583, NM_001037171, OTTHUMT00000056066, OTTHUMT00000056069, UC004DAQ.1, UC004DAR.1, UC004DAS.1, UC004DAT.1 | ||||||||
Position: |
|
RGD ID: | 13604926 | ||||||||
Promoter ID: | EPDNEW_H28647 | ||||||||
Type: | initiation region | ||||||||
Name: | ACOT9_1 | ||||||||
Description: | acyl-CoA thioesterase 9 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28648 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:17152 | AgrOrtholog |
COSMIC | ACOT9 | COSMIC |
Ensembl Genes | ENSG00000123130 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000336430 | ENTREZGENE |
ENST00000336430.11 | UniProtKB/Swiss-Prot | |
ENST00000379295 | ENTREZGENE | |
ENST00000379295.5 | UniProtKB/Swiss-Prot | |
ENST00000379303 | ENTREZGENE | |
ENST00000379303.10 | UniProtKB/Swiss-Prot | |
ENST00000473710.5 | UniProtKB/TrEMBL | |
ENST00000492081.1 | UniProtKB/TrEMBL | |
ENST00000494361.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | Hotdog Thioesterase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000123130 | GTEx |
HGNC ID | HGNC:17152 | ENTREZGENE |
Human Proteome Map | ACOT9 | Human Proteome Map |
InterPro | HOTDOG_ACOT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HotDog_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Thioestr_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:23597 | UniProtKB/Swiss-Prot |
NCBI Gene | 23597 | ENTREZGENE |
OMIM | 300862 | OMIM |
PANTHER | ACYL-COA THIOESTERASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ACYL-COENZYME A THIOESTERASE 9, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | 4HBT | UniProtKB/Swiss-Prot |
PharmGKB | PA142672656 | PharmGKB |
PROSITE | HOTDOG_ACOT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF54637 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | ACOT9_HUMAN | UniProtKB/Swiss-Prot |
B3KNC9 | ENTREZGENE | |
B7ZM94 | ENTREZGENE | |
C9J7L8_HUMAN | UniProtKB/TrEMBL | |
F8WDI2_HUMAN | UniProtKB/TrEMBL | |
H7C5Q2_HUMAN | UniProtKB/TrEMBL | |
Q96EA2_HUMAN | UniProtKB/TrEMBL | |
Q9Y305 | ENTREZGENE | |
UniProt Secondary | B3KNC9 | UniProtKB/Swiss-Prot |
B7ZM94 | UniProtKB/Swiss-Prot |