Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | OSGIN1 | 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) | OSGIN1 | Human | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:11459809 | PMID:12374686 | PMID:12477932 | PMID:14570898 | PMID:15489334 | PMID:16924236 | PMID:17192422 | PMID:18499678 | PMID:18597759 | PMID:19578798 | PMID:19851296 |
PMID:20198315 | PMID:20307321 | PMID:21737788 | PMID:21873635 | PMID:22658674 | PMID:22912861 | PMID:24417816 | PMID:24786516 | PMID:25416956 | PMID:25640309 | PMID:26186194 | PMID:27229929 |
PMID:28514442 | PMID:28548877 | PMID:29180628 | PMID:31515488 | PMID:31945190 | PMID:31996062 | PMID:32047918 | PMID:32296183 | PMID:33961781 | PMID:37646890 | PMID:39260748 |
OSGIN1 (Homo sapiens - human) |
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Osgin1 (Mus musculus - house mouse) |
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Osgin1 (Rattus norvegicus - Norway rat) |
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OSGIN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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OSGIN1 (Canis lupus familiaris - dog) |
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Osgin1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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OSGIN1 (Sus scrofa - pig) |
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OSGIN1 (Chlorocebus sabaeus - green monkey) |
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Osgin1 (Heterocephalus glaber - naked mole-rat) |
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Variants in OSGIN1
35 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 | copy number gain | See cases [RCV000050840] | Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 | copy number loss | See cases [RCV000051122] | Chr16:83878992..87223838 [GRCh38] Chr16:83912597..87257444 [GRCh37] Chr16:82470098..85814945 [NCBI36] Chr16:16q23.3-24.2 |
pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 | copy number gain | See cases [RCV000052422] | Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 | copy number gain | See cases [RCV000052421] | Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 | copy number gain | See cases [RCV000052423] | Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 | copy number gain | See cases [RCV000052424] | Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 | copy number loss | See cases [RCV000053359] | Chr16:78704275..87819342 [GRCh38] Chr16:78738172..87852948 [GRCh37] Chr16:77295673..86410449 [NCBI36] Chr16:16q23.1-24.2 |
pathogenic |
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 | copy number loss | See cases [RCV000053360] | Chr16:81753762..85714791 [GRCh38] Chr16:81787367..85748397 [GRCh37] Chr16:80344868..84305898 [NCBI36] Chr16:16q23.3-24.1 |
pathogenic |
GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3 | copy number gain | See cases [RCV000053935] | Chr16:83602431..84024341 [GRCh38] Chr16:83636036..84057946 [GRCh37] Chr16:82193537..82615447 [NCBI36] Chr16:16q23.3 |
uncertain significance |
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 | copy number loss | See cases [RCV000053361] | Chr16:83016872..85087809 [GRCh38] Chr16:83050477..85121415 [GRCh37] Chr16:81607978..83678916 [NCBI36] Chr16:16q23.3-24.1 |
pathogenic |
GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3 | copy number gain | See cases [RCV000053936] | Chr16:83796168..84063463 [GRCh38] Chr16:83829773..84097068 [GRCh37] Chr16:82387274..82654569 [NCBI36] Chr16:16q23.3 |
uncertain significance |
NM_182981.2(OSGIN1):c.657C>T (p.Leu219=) | single nucleotide variant | Malignant melanoma [RCV000071252] | Chr16:83965230 [GRCh38] Chr16:83998835 [GRCh37] Chr16:82556336 [NCBI36] Chr16:16q23.3 |
not provided |
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 | copy number loss | See cases [RCV000133814] | Chr16:70414573..84908120 [GRCh38] Chr16:70448476..84941726 [GRCh37] Chr16:69005977..83499227 [NCBI36] Chr16:16q22.1-24.1 |
pathogenic |
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 | copy number loss | See cases [RCV000133929] | Chr16:83399060..84908120 [GRCh38] Chr16:83432665..84941726 [GRCh37] Chr16:81990166..83499227 [NCBI36] Chr16:16q23.3-24.1 |
pathogenic |
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 | copy number gain | See cases [RCV000135758] | Chr16:83878992..84908120 [GRCh38] Chr16:83912597..84941726 [GRCh37] Chr16:82470098..83499227 [NCBI36] Chr16:16q23.3-24.1 |
pathogenic|uncertain significance |
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 | copy number gain | See cases [RCV000135863] | Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1 |
pathogenic |
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 | copy number loss | See cases [RCV000136504] | Chr16:83687650..86073240 [GRCh38] Chr16:83721255..86106846 [GRCh37] Chr16:82278756..84664347 [NCBI36] Chr16:16q23.3-24.1 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 | copy number gain | See cases [RCV000136898] | Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 | copy number gain | See cases [RCV000137495] | Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 | copy number gain | See cases [RCV000137980] | Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 | copy number gain | See cases [RCV000138549] | Chr16:83478453..84036483 [GRCh38] Chr16:83512058..84070088 [GRCh37] Chr16:82069559..82627589 [NCBI36] Chr16:16q23.3 |
uncertain significance |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 | copy number gain | See cases [RCV000139426] | Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 | copy number loss | See cases [RCV000139413] | Chr16:83763804..84558035 [GRCh38] Chr16:83797409..84591641 [GRCh37] Chr16:82354910..83149142 [NCBI36] Chr16:16q23.3-24.1 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 | copy number gain | See cases [RCV000139302] | Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 | copy number gain | See cases [RCV000141128] | Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 | copy number gain | See cases [RCV000141700] | Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 | copy number gain | See cases [RCV000142578] | Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 | copy number gain | See cases [RCV000143425] | Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 | copy number gain | See cases [RCV000240108] | Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3 |
pathogenic |
t(5;16)(p15.31;q23.1) | translocation | not provided [RCV000203391] | Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207138] | Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207182] | Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
Single allele | complex | Breast ductal adenocarcinoma [RCV000207314] | Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 | copy number loss | See cases [RCV000240561] | Chr16:83496909..84695933 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 | copy number gain | See cases [RCV000446110] | Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q23.3(chr16:83998698-84024074)x1 | copy number loss | See cases [RCV000447766] | Chr16:83998698..84024074 [GRCh37] Chr16:16q23.3 |
likely benign |
GRCh37/hg19 16q23.3(chr16:83986845-84014686)x3 | copy number gain | See cases [RCV000447928] | Chr16:83986845..84014686 [GRCh37] Chr16:16q23.3 |
benign|likely benign |
GRCh37/hg19 16q23.3(chr16:83903257-84174323)x1 | copy number loss | See cases [RCV000510687] | Chr16:83903257..84174323 [GRCh37] Chr16:16q23.3 |
likely benign |
GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1 | copy number loss | See cases [RCV000510184] | Chr16:83926471..84215425 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] | Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] | Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 | copy number gain | See cases [RCV000512511] | Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 | copy number gain | See cases [RCV000512468] | Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q23.3(chr16:83253758-84134459)x1 | copy number loss | not provided [RCV000683850] | Chr16:83253758..84134459 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 | copy number gain | not provided [RCV000683845] | Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 | copy number gain | not provided [RCV000683831] | Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 | copy number gain | not provided [RCV000739258] | Chr16:83813294..84984350 [GRCh37] Chr16:16q23.3-24.1 |
likely benign |
GRCh37/hg19 16q23.3(chr16:83935523-84057571)x1 | copy number loss | not provided [RCV000739260] | Chr16:83935523..84057571 [GRCh37] Chr16:16q23.3 |
benign |
NM_182981.3(OSGIN1):c.516C>T (p.Ala172=) | single nucleotide variant | not provided [RCV000968332] | Chr16:83965089 [GRCh38] Chr16:83998694 [GRCh37] Chr16:16q23.3 |
benign |
NM_182981.3(OSGIN1):c.540G>A (p.Arg180=) | single nucleotide variant | not provided [RCV000904375] | Chr16:83965113 [GRCh38] Chr16:83998718 [GRCh37] Chr16:16q23.3 |
benign |
GRCh37/hg19 16q23.3(chr16:83970585-84077491)x1 | copy number loss | not provided [RCV000845768] | Chr16:83970585..84077491 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.3(chr16:83904100-84058759)x1 | copy number loss | not provided [RCV000845885] | Chr16:83904100..84058759 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 | copy number loss | not provided [RCV000849998] | Chr16:79254648..84827672 [GRCh37] Chr16:16q23.2-24.1 |
uncertain significance |
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 | copy number loss | not provided [RCV001006830] | Chr16:83330709..84866927 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1 | copy number loss | not provided [RCV001006831] | Chr16:83853228..84189313 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.3(chr16:83903257-84057905)x1 | copy number loss | not provided [RCV001006832] | Chr16:83903257..84057905 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.37A>C (p.Ser13Arg) | single nucleotide variant | not provided [RCV000963345] | Chr16:83957708 [GRCh38] Chr16:83991313 [GRCh37] Chr16:16q23.3 |
benign|likely benign |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 | copy number gain | not provided [RCV001249359] | Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 | copy number gain | not provided [RCV001795551] | Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) | copy number loss | not specified [RCV002052553] | Chr16:83313106..84608026 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
NC_000016.9:g.(?_83932750)_(84056514_?)del | deletion | Deficiency of malonyl-CoA decarboxylase [RCV001956536] | Chr16:83932750..84056514 [GRCh37] Chr16:16q23.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 | copy number gain | not provided [RCV002221458] | Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NC_000016.9:g.(?_83932750)_(84211465_?)dup | duplication | Primary ciliary dyskinesia [RCV003113901] | Chr16:83932750..84211465 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 | copy number gain | Syndromic anorectal malformation [RCV002286607] | Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3 |
likely pathogenic |
GRCh37/hg19 16q23.3(chr16:82943629-84073053)x3 | copy number gain | not provided [RCV002474827] | Chr16:82943629..84073053 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.523A>G (p.Ile175Val) | single nucleotide variant | not specified [RCV004599550] | Chr16:83965096 [GRCh38] Chr16:83998701 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.913C>T (p.Arg305Cys) | single nucleotide variant | not specified [RCV004188308] | Chr16:83965486 [GRCh38] Chr16:83999091 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.940G>A (p.Ala314Thr) | single nucleotide variant | not specified [RCV004230862] | Chr16:83965513 [GRCh38] Chr16:83999118 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1285G>A (p.Val429Met) | single nucleotide variant | not specified [RCV004217925] | Chr16:83965858 [GRCh38] Chr16:83999463 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.866T>A (p.Leu289His) | single nucleotide variant | not specified [RCV004136276] | Chr16:83965439 [GRCh38] Chr16:83999044 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.914G>A (p.Arg305His) | single nucleotide variant | not specified [RCV004135821] | Chr16:83965487 [GRCh38] Chr16:83999092 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1059C>A (p.Ser353Arg) | single nucleotide variant | not specified [RCV004166454] | Chr16:83965632 [GRCh38] Chr16:83999237 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.743C>A (p.Thr248Lys) | single nucleotide variant | not specified [RCV004120362] | Chr16:83965316 [GRCh38] Chr16:83998921 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.388G>T (p.Ala130Ser) | single nucleotide variant | not specified [RCV004120290] | Chr16:83960752 [GRCh38] Chr16:83994357 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.755C>T (p.Pro252Leu) | single nucleotide variant | not specified [RCV004073507] | Chr16:83965328 [GRCh38] Chr16:83998933 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.299G>T (p.Gly100Val) | single nucleotide variant | not specified [RCV004129609] | Chr16:83960663 [GRCh38] Chr16:83994268 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.583G>A (p.Gly195Ser) | single nucleotide variant | not specified [RCV004128429] | Chr16:83965156 [GRCh38] Chr16:83998761 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1089G>T (p.Arg363Ser) | single nucleotide variant | not specified [RCV004177543] | Chr16:83965662 [GRCh38] Chr16:83999267 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.403G>A (p.Glu135Lys) | single nucleotide variant | not specified [RCV004238478] | Chr16:83960987 [GRCh38] Chr16:83994592 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1331C>T (p.Ala444Val) | single nucleotide variant | not specified [RCV004122492] | Chr16:83965904 [GRCh38] Chr16:83999509 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1127T>G (p.Val376Gly) | single nucleotide variant | not specified [RCV004269232] | Chr16:83965700 [GRCh38] Chr16:83999305 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.371G>A (p.Arg124Gln) | single nucleotide variant | not specified [RCV004254375] | Chr16:83960735 [GRCh38] Chr16:83994340 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.232G>A (p.Glu78Lys) | single nucleotide variant | not specified [RCV004251566] | Chr16:83960596 [GRCh38] Chr16:83994201 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.676C>G (p.Leu226Val) | single nucleotide variant | not specified [RCV004282946] | Chr16:83965249 [GRCh38] Chr16:83998854 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.997C>A (p.Leu333Met) | single nucleotide variant | not specified [RCV004269233] | Chr16:83965570 [GRCh38] Chr16:83999175 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.494T>G (p.Leu165Arg) | single nucleotide variant | not specified [RCV004269704] | Chr16:83965067 [GRCh38] Chr16:83998672 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.3(chr16:83853229-84046593)x1 | copy number loss | not provided [RCV003483299] | Chr16:83853229..84046593 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3 | copy number gain | not specified [RCV003987204] | Chr16:83307393..84530337 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
NM_182981.3(OSGIN1):c.31G>A (p.Ala11Thr) | single nucleotide variant | not specified [RCV004504515] | Chr16:83957702 [GRCh38] Chr16:83991307 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.334C>T (p.Arg112Trp) | single nucleotide variant | not specified [RCV004504516] | Chr16:83960698 [GRCh38] Chr16:83994303 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.821C>T (p.Ala274Val) | single nucleotide variant | not specified [RCV004504518] | Chr16:83965394 [GRCh38] Chr16:83998999 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 | copy number gain | not provided [RCV004577473] | Chr16:82865402..90163542 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NM_182981.3(OSGIN1):c.550G>A (p.Val184Ile) | single nucleotide variant | not specified [RCV004661892] | Chr16:83965123 [GRCh38] Chr16:83998728 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.826A>G (p.Thr276Ala) | single nucleotide variant | not specified [RCV004661893] | Chr16:83965399 [GRCh38] Chr16:83999004 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1009T>C (p.Tyr337His) | single nucleotide variant | not specified [RCV004504513] | Chr16:83965582 [GRCh38] Chr16:83999187 [GRCh37] Chr16:16q23.3 |
uncertain significance |
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 | copy number gain | See cases [RCV000140831] | Chr16:83763804..84276472 [GRCh38] Chr16:83797409..84310078 [GRCh37] Chr16:82354910..82867579 [NCBI36] Chr16:16q23.3-24.1 |
uncertain significance |
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 | copy number gain | See cases [RCV000142698] | Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 | copy number loss | See cases [RCV000203439] | Chr16:83553094..86098013 [GRCh37] Chr16:16q23.3-24.1 |
likely pathogenic |
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) | copy number gain | not provided [RCV000767619] | Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
Single allele | deletion | Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] | Chr16:83931797..86285776 [GRCh37] Chr16:16q23.3-24.1 |
likely pathogenic |
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 | copy number gain | not provided [RCV001258657] | Chr16:83866931..85276940 [GRCh37] Chr16:16q23.3-24.1 |
uncertain significance |
NM_182981.3(OSGIN1):c.772C>T (p.Pro258Ser) | single nucleotide variant | not specified [RCV004275578] | Chr16:83965345 [GRCh38] Chr16:83998950 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.1264G>A (p.Ala422Thr) | single nucleotide variant | not specified [RCV004504514] | Chr16:83965837 [GRCh38] Chr16:83999442 [GRCh37] Chr16:16q23.3 |
likely benign |
NM_182981.3(OSGIN1):c.722A>G (p.Asn241Ser) | single nucleotide variant | not specified [RCV004504517] | Chr16:83965295 [GRCh38] Chr16:83998900 [GRCh37] Chr16:16q23.3 |
uncertain significance |
NM_182981.3(OSGIN1):c.848C>T (p.Pro283Leu) | single nucleotide variant | not specified [RCV004504519] | Chr16:83965421 [GRCh38] Chr16:83999026 [GRCh37] Chr16:16q23.3 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
WI-15020 |
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SHGC-147839 |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2249 | 4968 | 1726 | 2351 | 6 | 624 | 1933 | 465 | 2269 | 7292 | 6458 | 53 | 3728 | 1 | 852 | 1744 | 1617 | 174 | 1 |
RefSeq Transcripts | NG_029757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_182981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC040169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF191740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF334780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY037158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY258066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY258067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY258068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC093687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC113417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM976366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HI573984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HI573986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HI573988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000343939 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000361711 ⟹ ENSP00000355374 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000393306 ⟹ ENSP00000376983 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000563248 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000563543 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000565123 ⟹ ENSP00000462048 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000566667 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000567707 ⟹ ENSP00000457157 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_182981 ⟹ NP_892026 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_892026 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAF06662 | (Get FASTA) | NCBI Sequence Viewer |
AAH32476 | (Get FASTA) | NCBI Sequence Viewer | |
AAH93687 | (Get FASTA) | NCBI Sequence Viewer | |
AAI13418 | (Get FASTA) | NCBI Sequence Viewer | |
AAK01722 | (Get FASTA) | NCBI Sequence Viewer | |
AAK67637 | (Get FASTA) | NCBI Sequence Viewer | |
AAP14662 | (Get FASTA) | NCBI Sequence Viewer | |
AAP14663 | (Get FASTA) | NCBI Sequence Viewer | |
AAP14664 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83072 | (Get FASTA) | NCBI Sequence Viewer | |
CBX47481 | (Get FASTA) | NCBI Sequence Viewer | |
CBX47482 | (Get FASTA) | NCBI Sequence Viewer | |
CBX47483 | (Get FASTA) | NCBI Sequence Viewer | |
EAW95511 | (Get FASTA) | NCBI Sequence Viewer | |
EAW95512 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000355374.3 | ||
ENSP00000376983 | |||
ENSP00000376983.1 | |||
ENSP00000457157.1 | |||
ENSP00000462048.1 | |||
GenBank Protein | Q9UJX0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_892026 ⟸ NM_182981 |
- UniProtKB: | Q96S88 (UniProtKB/Swiss-Prot), Q86UQ1 (UniProtKB/Swiss-Prot), Q52M33 (UniProtKB/Swiss-Prot), Q9BZ70 (UniProtKB/Swiss-Prot), Q9UJX0 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000355374 ⟸ ENST00000361711 |
Ensembl Acc Id: | ENSP00000376983 ⟸ ENST00000393306 |
Ensembl Acc Id: | ENSP00000462048 ⟸ ENST00000565123 |
Ensembl Acc Id: | ENSP00000457157 ⟸ ENST00000567707 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9UJX0-F1-model_v2 | AlphaFold | Q9UJX0 | 1-477 | view protein structure |
RGD ID: | 6793350 | ||||||||
Promoter ID: | HG_KWN:24361 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_182981 | ||||||||
Position: |
|
RGD ID: | 7232993 | ||||||||
Promoter ID: | EPDNEW_H22243 | ||||||||
Type: | initiation region | ||||||||
Name: | OSGIN1_1 | ||||||||
Description: | oxidative stress induced growth inhibitor 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:30093 | AgrOrtholog |
COSMIC | OSGIN1 | COSMIC |
Ensembl Genes | ENSG00000140961 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000361711.7 | UniProtKB/Swiss-Prot |
ENST00000393306 | ENTREZGENE | |
ENST00000393306.6 | UniProtKB/Swiss-Prot | |
ENST00000565123.5 | UniProtKB/TrEMBL | |
ENST00000567707.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.50.50.60 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000140961 | GTEx |
HGNC ID | HGNC:30093 | ENTREZGENE |
Human Proteome Map | OSGIN1 | Human Proteome Map |
InterPro | FAD/NAD-bd_sf | UniProtKB/Swiss-Prot |
OKL38_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:29948 | UniProtKB/Swiss-Prot |
NCBI Gene | 29948 | ENTREZGENE |
OMIM | 607975 | OMIM |
PANTHER | PTHR15192 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR15192:SF15 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA162398489 | PharmGKB |
Superfamily-SCOP | SSF51905 | UniProtKB/Swiss-Prot |
UniProt | H3BTF9_HUMAN | UniProtKB/TrEMBL |
J3KRK7_HUMAN | UniProtKB/TrEMBL | |
OSGI1_HUMAN | UniProtKB/Swiss-Prot | |
Q52M33 | ENTREZGENE | |
Q86UQ1 | ENTREZGENE | |
Q96S88 | ENTREZGENE | |
Q9BZ70 | ENTREZGENE | |
Q9UJX0 | ENTREZGENE | |
UniProt Secondary | Q52M33 | UniProtKB/Swiss-Prot |
Q86UQ1 | UniProtKB/Swiss-Prot | |
Q96S88 | UniProtKB/Swiss-Prot | |
Q9BZ70 | UniProtKB/Swiss-Prot |