Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Expression of Selenoprotein Genes and Association with Selenium Status in Colorectal Adenoma and Colorectal Cancer. | Hughes DJ, etal., Nutrients. 2018 Nov 21;10(11). pii: nu10111812. doi: 10.3390/nu10111812. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:7829101 | PMID:8125298 | PMID:8889548 | PMID:10931946 | PMID:12031974 | PMID:12477932 | PMID:12663463 | PMID:12775843 | PMID:14702039 | PMID:15063746 | PMID:15161744 | PMID:15215856 |
PMID:15229221 | PMID:15489334 | PMID:16186509 | PMID:16186510 | PMID:16227999 | PMID:16289116 | PMID:16574427 | PMID:16751776 | PMID:17000876 | PMID:17210132 | PMID:17374524 | PMID:17641917 |
PMID:17661913 | PMID:17872946 | PMID:17880573 | PMID:18029348 | PMID:18068137 | PMID:18199748 | PMID:18625033 | PMID:18626009 | PMID:18675776 | PMID:18710632 | PMID:18728048 | PMID:18974842 |
PMID:19144102 | PMID:19164805 | PMID:19336475 | PMID:19398551 | PMID:19948975 | PMID:20114070 | PMID:20378690 | PMID:20619427 | PMID:21052528 | PMID:21456042 | PMID:21832065 | PMID:21873635 |
PMID:22119785 | PMID:22479358 | PMID:22700979 | PMID:22708491 | PMID:23161441 | PMID:23264731 | PMID:23602568 | PMID:23614019 | PMID:23776519 | PMID:23829426 | PMID:23867461 | PMID:23914919 |
PMID:24068947 | PMID:24089527 | PMID:24275540 | PMID:24424410 | PMID:24471570 | PMID:24573439 | PMID:24700463 | PMID:24807418 | PMID:25008318 | PMID:25390504 | PMID:25433273 | PMID:26016409 |
PMID:26275350 | PMID:26382012 | PMID:26504085 | PMID:26549226 | PMID:27121097 | PMID:27802219 | PMID:28315680 | PMID:28514442 | PMID:29180619 | PMID:29395067 | PMID:29513927 | PMID:29540532 |
PMID:29555962 | PMID:29599191 | PMID:30082770 | PMID:30194290 | PMID:30413610 | PMID:30526872 | PMID:30572598 | PMID:31056421 | PMID:31265177 | PMID:31426718 | PMID:31542866 | PMID:31846435 |
PMID:31880214 | PMID:32296183 | PMID:32353859 | PMID:33060197 | PMID:33290140 | PMID:33671632 | PMID:33845483 | PMID:33961781 | PMID:34079125 | PMID:34597346 | PMID:34672954 | PMID:35271311 |
PMID:35337019 | PMID:35569765 | PMID:36217030 | PMID:36773692 | PMID:37092056 |
SELENOS (Homo sapiens - human) |
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Selenos (Mus musculus - house mouse) |
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Selenos (Rattus norvegicus - Norway rat) |
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Selenos (Chinchilla lanigera - long-tailed chinchilla) |
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SELENOS (Pan paniscus - bonobo/pygmy chimpanzee) |
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SELENOS (Canis lupus familiaris - dog) |
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Selenos (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SELENOS (Sus scrofa - pig) |
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SELENOS (Chlorocebus sabaeus - green monkey) |
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Selenos (Heterocephalus glaber - naked mole-rat) |
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Variants in SELENOS
6 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 | copy number gain | See cases [RCV000050851] | Chr15:94033008..101843270 [GRCh38] Chr15:94576237..102383473 [GRCh37] Chr15:92377241..100200996 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 | copy number gain | See cases [RCV000052354] | Chr15:89679237..101978958 [GRCh38] Chr15:90222468..102519161 [GRCh37] Chr15:88023472..100336684 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] | Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 | copy number gain | See cases [RCV000052347] | Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 | copy number gain | See cases [RCV000052352] | Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 | copy number loss | See cases [RCV000053228] | Chr15:96069425..101849578 [GRCh38] Chr15:96612654..102389781 [GRCh37] Chr15:94413658..100207304 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 | copy number loss | See cases [RCV000053244] | Chr15:96329791..101849578 [GRCh38] Chr15:96873020..102389781 [GRCh37] Chr15:94674024..100207304 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 | copy number loss | See cases [RCV000053245] | Chr15:96913979..101843411 [GRCh38] Chr15:97457209..102383614 [GRCh37] Chr15:95258213..100201137 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 | copy number loss | See cases [RCV000053246] | Chr15:97735430..101810992 [GRCh38] Chr15:98278660..102351195 [GRCh37] Chr15:96079664..100168718 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 | copy number loss | See cases [RCV000053247] | Chr15:98845807..101843270 [GRCh38] Chr15:99389036..102383473 [GRCh37] Chr15:97206559..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] | Chr15:98926805..101843270 [GRCh38] Chr15:99470034..102383473 [GRCh37] Chr15:97287557..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|See cases [RCV000053249] | Chr15:100126374..101843270 [GRCh38] Chr15:100666579..102383473 [GRCh37] Chr15:98484102..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 | copy number loss | See cases [RCV000053250] | Chr15:100222791..101843270 [GRCh38] Chr15:100762996..102383473 [GRCh37] Chr15:98580519..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 | copy number loss | See cases [RCV000133733] | Chr15:93198717..101843270 [GRCh38] Chr15:93741946..102383473 [GRCh37] Chr15:91542950..100200996 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3 | copy number gain | See cases [RCV000134435] | Chr15:101240570..101468912 [GRCh38] Chr15:101780775..102009117 [GRCh37] Chr15:99598298..99826640 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 | copy number loss | See cases [RCV000135397] | Chr15:97014065..101843270 [GRCh38] Chr15:97557295..102383473 [GRCh37] Chr15:95358299..100200996 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 | copy number loss | See cases [RCV000134969] | Chr15:99155987..101843270 [GRCh38] Chr15:99696192..102383473 [GRCh37] Chr15:97513715..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 | copy number gain | See cases [RCV000135858] | Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 | copy number gain | See cases [RCV000135568] | Chr15:87904735..101843270 [GRCh38] Chr15:88447966..102383473 [GRCh37] Chr15:86248970..100200996 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3 | copy number gain | See cases [RCV000136485] | Chr15:101170474..101474188 [GRCh38] Chr15:101710679..102014393 [GRCh37] Chr15:99528202..99831916 [NCBI36] Chr15:15q26.3 |
benign |
GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3 | copy number gain | See cases [RCV000135930] | Chr15:100194660..101373649 [GRCh38] Chr15:100734865..101913854 [GRCh37] Chr15:98552388..99731377 [NCBI36] Chr15:15q26.3 |
pathogenic|uncertain significance |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 | copy number gain | See cases [RCV000136849] | Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 | copy number loss | See cases [RCV000136864] | Chr15:95770627..101810992 [GRCh38] Chr15:96313856..102351195 [GRCh37] Chr15:94114860..100168718 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 | copy number gain | See cases [RCV000137264] | Chr15:85826665..101920998 [GRCh38] Chr15:86369896..102461201 [GRCh37] Chr15:84170900..100278724 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 | copy number loss | See cases [RCV000139666] | Chr15:97941427..101797926 [GRCh38] Chr15:98484657..102338129 [GRCh37] Chr15:96285661..100155652 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 | copy number loss | See cases [RCV000141263] | Chr15:97172754..101920998 [GRCh38] Chr15:97715984..102461201 [GRCh37] Chr15:95516988..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 | copy number gain | See cases [RCV000141431] | Chr15:93041524..101941326 [GRCh38] Chr15:93584754..102481529 [GRCh37] Chr15:91385758..100299052 [NCBI36] Chr15:15q26.1-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 | copy number gain | See cases [RCV000140658] | Chr15:97283711..101920998 [GRCh38] Chr15:97826941..102461201 [GRCh37] Chr15:95627945..100278724 [NCBI36] Chr15:15q26.2-26.3 |
likely pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 | copy number gain | See cases [RCV000141899] | Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3 | copy number gain | See cases [RCV000143074] | Chr15:101045648..101457911 [GRCh38] Chr15:101585853..101998116 [GRCh37] Chr15:99403376..99815639 [NCBI36] Chr15:15q26.3 |
likely benign |
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 | copy number loss | See cases [RCV000143088] | Chr15:96024127..101920998 [GRCh38] Chr15:96567356..102461201 [GRCh37] Chr15:94368360..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 | copy number gain | See cases [RCV000142579] | Chr15:99338283..101843270 [GRCh38] Chr15:99878488..102383473 [GRCh37] Chr15:97696011..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 | copy number loss | See cases [RCV000142728] | Chr15:98467297..101843270 [GRCh38] Chr15:99010526..102383473 [GRCh37] Chr15:96828049..100200996 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 | copy number loss | See cases [RCV000143176] | Chr15:97681713..101920998 [GRCh38] Chr15:98224943..102461201 [GRCh37] Chr15:96025947..100278724 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 | copy number loss | See cases [RCV000143687] | Chr15:93805032..101326876 [GRCh38] Chr15:94348261..101867081 [GRCh37] Chr15:92149265..99684604 [NCBI36] Chr15:15q26.2-26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 | copy number gain | See cases [RCV000143526] | Chr15:98280297..101888909 [GRCh38] Chr15:98823526..102429112 [GRCh37] Chr15:96641049..100246635 [NCBI36] Chr15:15q26.3 |
pathogenic |
GRCh38/hg38 15q26.3(chr15:101138520-101293161)x1 | copy number loss | Premature ovarian failure [RCV000225152] | Chr15:101138520..101293161 [GRCh38] Chr15:101678725..101833366 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 | copy number gain | See cases [RCV000511332] | Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 | copy number loss | See cases [RCV000239905] | Chr15:98458265..102354857 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3 | copy number gain | See cases [RCV000239911] | Chr15:101645331..102263418 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 | copy number loss | See cases [RCV000240535] | Chr15:92197136..102354857 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 | copy number gain | See cases [RCV000240602] | Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 | copy number gain | not provided [RCV000415836] | Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 | copy number gain | See cases [RCV000449119] | Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 | copy number gain | See cases [RCV000447123] | Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) | copy number loss | See cases [RCV000447603] | Chr15:90346994..102354798 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 | copy number loss | See cases [RCV000446457] | Chr15:95238218..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 | copy number gain | See cases [RCV000445978] | Chr15:89924847..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 | copy number loss | See cases [RCV000445764] | Chr15:94782891..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 | copy number gain | See cases [RCV000445705] | Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 | copy number gain | See cases [RCV000448044] | Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
NC_000015.9:g.(?_100885379)_(102399948_?)dup | duplication | Schizophrenia [RCV000416623] | Chr15:100885379..102399948 [GRCh37] Chr15:98702902..100217471 [NCBI36] Chr15:15q26.3 |
likely pathogenic |
GRCh37/hg19 15q26.3(chr15:98818228-102399760) | copy number loss | See cases [RCV000447813] | Chr15:98818228..102399760 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 | copy number loss | See cases [RCV000448857] | Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 | copy number loss | See cases [RCV000512141] | Chr15:95136822..102045577 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1 | copy number loss | See cases [RCV000510246] | Chr15:101124214..102429112 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 | copy number loss | See cases [RCV000510663] | Chr15:96913435..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3 | copy number gain | See cases [RCV000511628] | Chr15:101569237..102344434 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 | copy number gain | See cases [RCV000511719] | Chr15:93148806..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1 | copy number loss | See cases [RCV000511119] | Chr15:100564922..102399548 [GRCh37] Chr15:15q26.3 |
uncertain significance |
NM_018445.6(SELENOS):c.52G>C (p.Gly18Arg) | single nucleotide variant | Inborn genetic diseases [RCV003292611] | Chr15:101277366 [GRCh38] Chr15:101817571 [GRCh37] Chr15:15q26.3 |
uncertain significance |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 | copy number loss | See cases [RCV000512353] | Chr15:98220018..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 | copy number loss | See cases [RCV000512205] | Chr15:101238481..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 | copy number loss | See cases [RCV000512437] | Chr15:98737093..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1 | copy number loss | not provided [RCV000683730] | Chr15:100526020..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 | copy number gain | not provided [RCV000683718] | Chr15:89743929..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3 | copy number gain | not provided [RCV000683726] | Chr15:99928623..102429112 [GRCh37] Chr15:15q26.3 |
likely pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 | copy number gain | not provided [RCV000683703] | Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3 | copy number gain | not provided [RCV000683736] | Chr15:101734079..102429112 [GRCh37] Chr15:15q26.3 |
likely benign|uncertain significance |
GRCh37/hg19 15q26.3(chr15:101595256-101899130)x3 | copy number gain | not provided [RCV000683735] | Chr15:101595256..101899130 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 | copy number gain | not provided [RCV000683710] | Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 | copy number gain | not provided [RCV000738864] | Chr15:88385150..102461162 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 | copy number gain | not provided [RCV000751387] | Chr15:90277151..102376761 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 | copy number loss | Chromosome 15q26-qter deletion syndrome [RCV000993689] | Chr15:96878099..102397836 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
NM_018445.6(SELENOS):c.360C>T (p.Asp120=) | single nucleotide variant | not provided [RCV000965311] | Chr15:101274640 [GRCh38] Chr15:101814845 [GRCh37] Chr15:15q26.3 |
benign |
NM_018445.6(SELENOS):c.459G>A (p.Ser153=) | single nucleotide variant | not provided [RCV000966439] | Chr15:101274445 [GRCh38] Chr15:101814650 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) | copy number loss | not provided [RCV000767761] | Chr15:96873212..102389423 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 | copy number gain | not provided [RCV000846885] | Chr15:90288175..102429112 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3 | copy number gain | not provided [RCV000848225] | Chr15:101696490..102311245 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q26.3(chr15:101781933-102133671)x3 | copy number gain | not provided [RCV000849379] | Chr15:101781933..102133671 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 | copy number loss | not provided [RCV001006718] | Chr15:87189245..102429112 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 | copy number loss | not provided [RCV001006729] | Chr15:98686212..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
NM_018445.6(SELENOS):c.525C>T (p.Ser175=) | single nucleotide variant | not provided [RCV000930427] | Chr15:101272816 [GRCh38] Chr15:101813021 [GRCh37] Chr15:15q26.3 |
likely benign |
NM_018445.6(SELENOS):c.389G>T (p.Gly130Val) | single nucleotide variant | not provided [RCV000957344] | Chr15:101274611 [GRCh38] Chr15:101814816 [GRCh37] Chr15:15q26.3 |
benign |
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 | copy number loss | not provided [RCV001006730] | Chr15:98795669..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3 | copy number gain | not provided [RCV001259823] | Chr15:101683593..102270458 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 | copy number loss | not provided [RCV001259819] | Chr15:98275761..102358202 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1 | copy number loss | not provided [RCV001259829] | Chr15:100853021..102429112 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 | copy number loss | See cases [RCV001263026] | Chr15:86962053..102531392 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 | copy number loss | not provided [RCV001537887] | Chr15:92335751..102399741 [GRCh37] Chr15:15q26.1-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3 | copy number gain | not provided [RCV001832991] | Chr15:101783340..102429112 [GRCh37] Chr15:15q26.3 |
likely benign |
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112) | copy number loss | not specified [RCV002052490] | Chr15:97026327..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:99258367-102429112) | copy number loss | not specified [RCV002052494] | Chr15:99258367..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112) | copy number loss | not specified [RCV002052491] | Chr15:97223728..102429112 [GRCh37] Chr15:15q26.2-26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3 | copy number gain | not provided [RCV001827780] | Chr15:101659856..102429112 [GRCh37] Chr15:15q26.3 |
likely benign|uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 | copy number gain | not provided [RCV002475797] | Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_018445.6(SELENOS):c.53G>A (p.Gly18Glu) | single nucleotide variant | Inborn genetic diseases [RCV003192927] | Chr15:101277365 [GRCh38] Chr15:101817570 [GRCh37] Chr15:15q26.3 |
uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 | copy number gain | not provided [RCV003222840] | Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 | copy number gain | See cases [RCV003329502] | Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
Single allele | deletion | not provided [RCV003448683] | Chr15:98565904..102400021 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1 | copy number loss | not specified [RCV003987093] | Chr15:98679543..102429112 [GRCh37] Chr15:15q26.3 |
pathogenic |
GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3 | copy number gain | not specified [RCV003987113] | Chr15:94176550..102429112 [GRCh37] Chr15:15q26.1-26.3 |
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. |
RH46969 |
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RH101959 |
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SHGC-146438 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2439 | 2367 | 1707 | 611 | 1376 | 452 | 4343 | 2090 | 3218 | 404 | 1458 | 1611 | 175 | 1 | 1204 | 2774 | 6 | 2 |
Low | 624 | 19 | 13 | 575 | 13 | 14 | 107 | 516 | 15 | 2 | 2 | 14 | ||||||
Below cutoff |
RefSeq Transcripts | NG_013322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_018445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_203472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA487772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC023024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF157317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF328864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI673590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK026455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK097011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK225955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY324824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY618665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC005840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC107774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG829960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI494034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ014190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU740863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ578816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DW430970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000398226 ⟹ ENSP00000381282 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000526043 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000526049 ⟹ ENSP00000433541 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000527833 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000528346 ⟹ ENSP00000434842 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000529968 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531964 ⟹ ENSP00000433803 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000534014 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_018445 ⟹ NP_060915 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_203472 ⟹ NP_982298 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_060915 | (Get FASTA) | NCBI Sequence Viewer |
NP_982298 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAF67483 | (Get FASTA) | NCBI Sequence Viewer |
AAH05840 | (Get FASTA) | NCBI Sequence Viewer | |
AAI07775 | (Get FASTA) | NCBI Sequence Viewer | |
AAK15708 | (Get FASTA) | NCBI Sequence Viewer | |
AAP85541 | (Get FASTA) | NCBI Sequence Viewer | |
AAT46592 | (Get FASTA) | NCBI Sequence Viewer | |
EAX02295 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000381282 | ||
ENSP00000381282.3 | |||
ENSP00000433541 | |||
ENSP00000433541.1 | |||
ENSP00000433803.1 | |||
ENSP00000434842.1 | |||
GenBank Protein | Q9BQE4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_982298 ⟸ NM_203472 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q6GYA4 (UniProtKB/TrEMBL), A0A182DWI4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_060915 ⟸ NM_018445 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q3B771 (UniProtKB/Swiss-Prot), Q9P0I6 (UniProtKB/Swiss-Prot), Q9BQE4 (UniProtKB/Swiss-Prot), A0A182DWI4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000381282 ⟸ ENST00000398226 |
RefSeq Acc Id: | ENSP00000433803 ⟸ ENST00000531964 |
RefSeq Acc Id: | ENSP00000433541 ⟸ ENST00000526049 |
RefSeq Acc Id: | ENSP00000434842 ⟸ ENST00000528346 |
RGD ID: | 6792591 | ||||||||
Promoter ID: | HG_KWN:22488 | ||||||||
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_018445, NM_203472 | ||||||||
Position: |
|
RGD ID: | 7230693 | ||||||||
Promoter ID: | EPDNEW_H21092 | ||||||||
Type: | initiation region | ||||||||
Name: | VIMP_1 | ||||||||
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:30396 | AgrOrtholog |
COSMIC | SELENOS | COSMIC |
Ensembl Genes | ENSG00000131871 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000398226 | ENTREZGENE |
ENST00000398226.7 | UniProtKB/Swiss-Prot | |
ENST00000526049 | ENTREZGENE | |
ENST00000526049.6 | UniProtKB/Swiss-Prot | |
ENST00000528346.1 | UniProtKB/TrEMBL | |
ENST00000531964.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 6.10.250.2950 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000131871 | GTEx |
HGNC ID | HGNC:30396 | ENTREZGENE |
Human Proteome Map | SELENOS | Human Proteome Map |
InterPro | Selenoprotein_S | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:55829 | UniProtKB/Swiss-Prot |
NCBI Gene | 55829 | ENTREZGENE |
OMIM | 607918 | OMIM |
PANTHER | PTHR28621 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SELENOPROTEIN S | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Selenoprotein_S | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA166048999 | PharmGKB |
UniProt | A0A182DWI4 | ENTREZGENE, UniProtKB/TrEMBL |
E9PN30_HUMAN | UniProtKB/TrEMBL | |
Q3B771 | ENTREZGENE | |
Q6GYA4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9BQE4 | ENTREZGENE | |
Q9P0I6 | ENTREZGENE | |
SELS_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q3B771 | UniProtKB/Swiss-Prot |
Q9P0I6 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-09-27 | SELENOS | selenoprotein S | VIMP | VCP interacting membrane selenoprotein | Symbol and/or name change | 5135510 | APPROVED |
2016-01-19 | VIMP | VCP interacting membrane selenoprotein | VIMP | VCP-interacting membrane selenoprotein | Symbol and/or name change | 5135510 | APPROVED |
2015-04-28 | VIMP | VCP-interacting membrane selenoprotein | VIMP | VCP-interacting membrane protein | Symbol and/or name change | 5135510 | APPROVED |
2012-06-05 | VIMP | VCP-interacting membrane protein | SELS | selenoprotein S | Symbol and/or name change | 5135510 | APPROVED |