OSM (oncostatin M) - Rat Genome Database

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Gene: OSM (oncostatin M) Homo sapiens
Analyze
Symbol: OSM
Name: oncostatin M
RGD ID: 69134
HGNC Page HGNC:8506
Description: Enables cytokine activity; growth factor activity; and oncostatin-M receptor binding activity. Involved in several processes, including oncostatin-M-mediated signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of tyrosine phosphorylation of STAT protein. Acts upstream of or within several processes, including positive regulation of MAPK cascade; positive regulation of protein phosphorylation; and positive regulation of transcription by RNA polymerase II. Predicted to be located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC20461; oncostatin-M
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382230,262,829 - 30,266,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2230,262,829 - 30,266,851 (-)EnsemblGRCh38hg38GRCh38
GRCh372230,658,818 - 30,662,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,988,818 - 28,992,840 (-)NCBINCBI36Build 36hg18NCBI36
Build 342228,983,374 - 28,987,394NCBI
Celera2214,458,501 - 14,462,523 (-)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2213,620,598 - 13,624,609 (-)NCBIHuRef
CHM1_12230,617,955 - 30,621,966 (-)NCBICHM1_1
T2T-CHM13v2.02230,726,147 - 30,730,169 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitroquinoline N-oxide  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (ISO)
aldehydo-D-glucosamine  (EXP)
all-trans-retinoic acid  (EXP)
alpha-amanitin  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimonite  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
baricitinib  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carboplatin  (EXP)
ceric oxide  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
cobalt atom  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
diisopropyl fluorophosphate  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
erlotinib hydrochloride  (EXP)
gemcitabine  (EXP)
graphite  (ISO)
hydroxyflutamide  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
lovastatin  (EXP)
methylmercury chloride  (EXP,ISO)
N,N-diethyl-m-toluamide  (ISO)
N-ethylmaleimide  (EXP)
nickel atom  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (EXP)
paracetamol  (ISO)
PF-956980  (EXP)
PhIP  (EXP)
physostigmine  (ISO)
Pyridostigmine bromide  (ISO)
SB 203580  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP)
sodium arsenite  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tofacitinib  (EXP,ISO)
toluene 2,4-diisocyanate  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:1536831   PMID:1542793   PMID:1542794   PMID:1717982   PMID:2026606   PMID:2325640   PMID:2779549   PMID:3540948   PMID:7508917   PMID:7867561   PMID:8406444   PMID:8422753  
PMID:8999038   PMID:9847074   PMID:9920829   PMID:10556323   PMID:10591208   PMID:10997905   PMID:11711546   PMID:11777927   PMID:11811789   PMID:11818668   PMID:11839742   PMID:11936950  
PMID:12061840   PMID:12061841   PMID:12090757   PMID:12138373   PMID:12218157   PMID:12391243   PMID:12477932   PMID:12531804   PMID:12640208   PMID:12692260   PMID:12707269   PMID:15146412  
PMID:15461802   PMID:15489334   PMID:15712220   PMID:15809742   PMID:15831292   PMID:15837947   PMID:15863389   PMID:16051226   PMID:16369169   PMID:16713283   PMID:16802343   PMID:17009243  
PMID:17028186   PMID:17081797   PMID:17372020   PMID:17471233   PMID:17604327   PMID:17761945   PMID:17881458   PMID:17979974   PMID:18028996   PMID:18187666   PMID:18317962   PMID:18398932  
PMID:18499891   PMID:18564531   PMID:18637848   PMID:18772145   PMID:18981157   PMID:19019853   PMID:19086053   PMID:19148539   PMID:19158240   PMID:19158344   PMID:19342253   PMID:19565514  
PMID:19652200   PMID:19913121   PMID:19916861   PMID:20088942   PMID:20101226   PMID:20149034   PMID:20189410   PMID:20237496   PMID:20408777   PMID:20626292   PMID:20628086   PMID:20650266  
PMID:20661773   PMID:21196532   PMID:21376322   PMID:21399633   PMID:21399864   PMID:21457934   PMID:21481226   PMID:21775705   PMID:21832049   PMID:21873635   PMID:21900206   PMID:21912637  
PMID:21965736   PMID:21975934   PMID:22051730   PMID:22056139   PMID:22082156   PMID:22267310   PMID:22267707   PMID:22829597   PMID:22931588   PMID:22982441   PMID:23128233   PMID:23313749  
PMID:23584474   PMID:23621172   PMID:23735324   PMID:23867565   PMID:24297795   PMID:24381786   PMID:24418171   PMID:24600984   PMID:24710357   PMID:25241761   PMID:25252914   PMID:25735629  
PMID:25804939   PMID:25840724   PMID:25845347   PMID:25849622   PMID:25954856   PMID:26186194   PMID:26198770   PMID:26304992   PMID:26311783   PMID:26355153   PMID:26399567   PMID:27107012  
PMID:27211553   PMID:27349249   PMID:27486982   PMID:27676154   PMID:27892764   PMID:27993536   PMID:28053127   PMID:28106823   PMID:28288136   PMID:28368383   PMID:28471981   PMID:28514442  
PMID:28560754   PMID:28729401   PMID:28972028   PMID:29269396   PMID:29511087   PMID:29526757   PMID:29898744   PMID:30091322   PMID:30142324   PMID:30373773   PMID:30670533   PMID:30930146  
PMID:31461490   PMID:31753913   PMID:31861914   PMID:31930328   PMID:32325460   PMID:32359099   PMID:32652496   PMID:32678942   PMID:32690652   PMID:32703406   PMID:33216732   PMID:33624092  
PMID:33923774   PMID:33961781   PMID:33990221   PMID:34011405   PMID:34037532   PMID:34102284   PMID:34117193   PMID:34301760   PMID:34534575   PMID:34547509   PMID:34674925   PMID:34921158  
PMID:34933172   PMID:35020406   PMID:35064579   PMID:35163735   PMID:36054964   PMID:36623776   PMID:36856919   PMID:37047067   PMID:37247926   PMID:37476931   PMID:38035099   PMID:38151020  
PMID:38953214  


Genomics

Comparative Map Data
OSM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382230,262,829 - 30,266,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2230,262,829 - 30,266,851 (-)EnsemblGRCh38hg38GRCh38
GRCh372230,658,818 - 30,662,840 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,988,818 - 28,992,840 (-)NCBINCBI36Build 36hg18NCBI36
Build 342228,983,374 - 28,987,394NCBI
Celera2214,458,501 - 14,462,523 (-)NCBICelera
Cytogenetic Map22q12.2NCBI
HuRef2213,620,598 - 13,624,609 (-)NCBIHuRef
CHM1_12230,617,955 - 30,621,966 (-)NCBICHM1_1
T2T-CHM13v2.02230,726,147 - 30,730,169 (-)NCBIT2T-CHM13v2.0
Osm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39114,186,831 - 4,191,027 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl114,186,420 - 4,191,026 (+)EnsemblGRCm39 Ensembl
GRCm38114,236,785 - 4,241,026 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl114,236,420 - 4,241,026 (+)EnsemblGRCm38mm10GRCm38
MGSCv37114,136,788 - 4,141,029 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36114,136,423 - 4,141,029 (+)NCBIMGSCv36mm8
Celera114,735,950 - 4,740,191 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map112.94NCBI
Osm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81483,327,202 - 83,332,073 (+)NCBIGRCr8
mRatBN7.21479,103,638 - 79,108,500 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1479,104,344 - 79,108,313 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1483,545,045 - 83,547,887 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01484,785,121 - 84,787,963 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01481,231,091 - 81,233,943 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01484,457,487 - 84,469,426 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1484,465,515 - 84,470,409 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01485,139,161 - 85,151,646 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41484,857,232 - 84,860,082 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1478,014,541 - 78,017,610 (+)NCBICelera
Cytogenetic Map14q21NCBI
Osm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554554,511,769 - 4,514,633 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554554,510,711 - 4,515,282 (-)NCBIChiLan1.0ChiLan1.0
OSM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22340,229,981 - 40,234,801 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12242,928,587 - 42,932,631 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02211,298,965 - 11,303,009 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12229,101,084 - 29,105,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2229,101,085 - 29,105,081 (-)Ensemblpanpan1.1panPan2
OSM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12623,421,787 - 23,439,332 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2623,421,787 - 23,426,036 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2623,292,978 - 23,297,000 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02623,805,727 - 23,809,749 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2623,805,727 - 23,809,632 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12623,507,438 - 23,511,460 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02623,770,285 - 23,774,307 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02623,830,630 - 23,834,652 (-)NCBIUU_Cfam_GSD_1.0
Osm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118116,339,969 - 116,342,209 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936904390,089 - 394,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1447,242,774 - 47,246,838 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11447,242,767 - 47,246,836 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21450,281,695 - 50,298,845 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OSM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11913,142,652 - 13,147,548 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1913,144,442 - 13,147,494 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045112,998,919 - 113,002,927 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Osm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247476,580,717 - 6,584,695 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OSM
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3
pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2
pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 copy number loss See cases [RCV000052871] Chr22:28441035..30276511 [GRCh38]
Chr22:28837023..30672500 [GRCh37]
Chr22:27167023..29002500 [NCBI36]
Chr22:22q12.1-12.2
pathogenic
NM_020530.4(OSM):c.214G>A (p.Glu72Lys) single nucleotide variant Malignant melanoma [RCV000063888] Chr22:30264428 [GRCh38]
Chr22:30660417 [GRCh37]
Chr22:28990417 [NCBI36]
Chr22:22q12.2
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_020530.6(OSM):c.436C>T (p.Leu146Phe) single nucleotide variant not specified [RCV004304043] Chr22:30264206 [GRCh38]
Chr22:30660195 [GRCh37]
Chr22:22q12.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3 copy number gain See cases [RCV000448504] Chr22:29537064..30994320 [GRCh37]
Chr22:22q12.1-12.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2(chr22:30323089-31092425)x3 copy number gain See cases [RCV000448760] Chr22:30323089..31092425 [GRCh37]
Chr22:22q12.2
uncertain significance
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3 copy number gain See cases [RCV000510523] Chr22:28349854..33013062 [GRCh37]
Chr22:22q12.1-12.3
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
NM_020530.6(OSM):c.391G>A (p.Glu131Lys) single nucleotide variant not specified [RCV004300588] Chr22:30264251 [GRCh38]
Chr22:30660240 [GRCh37]
Chr22:22q12.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1 copy number loss not provided [RCV000684497] Chr22:29644625..31051719 [GRCh37]
Chr22:22q12.2
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
inv(22)(q12.2q12.2) inversion Anaplastic ependymoma [RCV000785873] Chr22:29684716..31740655 [GRCh37]
Chr22:22q12.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_020530.6(OSM):c.21G>T (p.Gln7His) single nucleotide variant not specified [RCV004326387] Chr22:30266779 [GRCh38]
Chr22:30662768 [GRCh37]
Chr22:22q12.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_29083885)_(34046674_?)dup duplication not provided [RCV001979643] Chr22:29083885..34046674 [GRCh37]
Chr22:22q12.1-12.3
uncertain significance
GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3 copy number gain not provided [RCV002473620] Chr22:30649178..31035087 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.334G>A (p.Asp112Asn) single nucleotide variant not specified [RCV004153190] Chr22:30264308 [GRCh38]
Chr22:30660297 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.235G>A (p.Gly79Arg) single nucleotide variant not specified [RCV004217186] Chr22:30264407 [GRCh38]
Chr22:30660396 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.691G>A (p.Gly231Arg) single nucleotide variant not specified [RCV004114116] Chr22:30263951 [GRCh38]
Chr22:30659940 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.72C>A (p.Ser24Arg) single nucleotide variant not specified [RCV004153227] Chr22:30265107 [GRCh38]
Chr22:30661096 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.619C>T (p.Arg207Trp) single nucleotide variant not specified [RCV004227882] Chr22:30264023 [GRCh38]
Chr22:30660012 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.485C>T (p.Thr162Met) single nucleotide variant not specified [RCV004201988] Chr22:30264157 [GRCh38]
Chr22:30660146 [GRCh37]
Chr22:22q12.2
likely benign
NM_020530.6(OSM):c.380G>A (p.Gly127Glu) single nucleotide variant not specified [RCV004181681] Chr22:30264262 [GRCh38]
Chr22:30660251 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.74T>C (p.Met25Thr) single nucleotide variant not specified [RCV004132317] Chr22:30265105 [GRCh38]
Chr22:30661094 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.7G>A (p.Val3Ile) single nucleotide variant not specified [RCV004154510] Chr22:30266793 [GRCh38]
Chr22:30662782 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.514G>A (p.Ala172Thr) single nucleotide variant not specified [RCV004074911] Chr22:30264128 [GRCh38]
Chr22:30660117 [GRCh37]
Chr22:22q12.2
likely benign
NM_020530.6(OSM):c.694G>A (p.Val232Met) single nucleotide variant not specified [RCV004194363] Chr22:30263948 [GRCh38]
Chr22:30659937 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.107G>A (p.Arg36His) single nucleotide variant not specified [RCV004122493] Chr22:30265072 [GRCh38]
Chr22:30661061 [GRCh37]
Chr22:22q12.2
likely benign
NM_020530.6(OSM):c.422C>T (p.Pro141Leu) single nucleotide variant not specified [RCV004189639] Chr22:30264220 [GRCh38]
Chr22:30660209 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.256A>G (p.Thr86Ala) single nucleotide variant not specified [RCV004104586] Chr22:30264386 [GRCh38]
Chr22:30660375 [GRCh37]
Chr22:22q12.2
likely benign
NM_020530.6(OSM):c.506G>T (p.Gly169Val) single nucleotide variant not specified [RCV004278905] Chr22:30264136 [GRCh38]
Chr22:30660125 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.359C>T (p.Ala120Val) single nucleotide variant not specified [RCV004353341] Chr22:30264283 [GRCh38]
Chr22:30660272 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.166C>G (p.Leu56Val) single nucleotide variant not specified [RCV004357562] Chr22:30265013 [GRCh38]
Chr22:30661002 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.736A>C (p.Thr246Pro) single nucleotide variant not specified [RCV004338305] Chr22:30263906 [GRCh38]
Chr22:30659895 [GRCh37]
Chr22:22q12.2
likely benign
NM_020530.6(OSM):c.697C>T (p.Arg233Cys) single nucleotide variant not specified [RCV004336764] Chr22:30263945 [GRCh38]
Chr22:30659934 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.269T>C (p.Leu90Pro) single nucleotide variant not specified [RCV004354227] Chr22:30264373 [GRCh38]
Chr22:30660362 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.101A>T (p.Glu34Val) single nucleotide variant not specified [RCV004504526] Chr22:30265078 [GRCh38]
Chr22:30661067 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.509G>A (p.Arg170Gln) single nucleotide variant not specified [RCV004504533] Chr22:30264133 [GRCh38]
Chr22:30660122 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.214G>C (p.Glu72Gln) single nucleotide variant not specified [RCV004504528] Chr22:30264428 [GRCh38]
Chr22:30660417 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.422C>G (p.Pro141Arg) single nucleotide variant not specified [RCV004504530] Chr22:30264220 [GRCh38]
Chr22:30660209 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.85G>A (p.Gly29Ser) single nucleotide variant not specified [RCV004504535] Chr22:30265094 [GRCh38]
Chr22:30661083 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.104A>G (p.Tyr35Cys) single nucleotide variant not specified [RCV004504527] Chr22:30265075 [GRCh38]
Chr22:30661064 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.302C>A (p.Ala101Asp) single nucleotide variant not specified [RCV004504529] Chr22:30264340 [GRCh38]
Chr22:30660329 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.478T>G (p.Ser160Ala) single nucleotide variant not specified [RCV004504531] Chr22:30264164 [GRCh38]
Chr22:30660153 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.524C>A (p.Pro175Gln) single nucleotide variant not specified [RCV004504534] Chr22:30264118 [GRCh38]
Chr22:30660107 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.536C>G (p.Thr179Ser) single nucleotide variant not specified [RCV004661894] Chr22:30264106 [GRCh38]
Chr22:30660095 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.479C>T (p.Ser160Leu) single nucleotide variant not specified [RCV004648035] Chr22:30264163 [GRCh38]
Chr22:30660152 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.575G>A (p.Cys192Tyr) single nucleotide variant not specified [RCV004648036] Chr22:30264067 [GRCh38]
Chr22:30660056 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.493C>T (p.Pro165Ser) single nucleotide variant not specified [RCV004648037] Chr22:30264149 [GRCh38]
Chr22:30660138 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.559C>T (p.Arg187Cys) single nucleotide variant not specified [RCV004648034] Chr22:30264083 [GRCh38]
Chr22:30660072 [GRCh37]
Chr22:22q12.2
uncertain significance
NM_020530.6(OSM):c.604A>G (p.Met202Val) single nucleotide variant not specified [RCV004343631] Chr22:30264038 [GRCh38]
Chr22:30660027 [GRCh37]
Chr22:22q12.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1240
Count of miRNA genes:682
Interacting mature miRNAs:784
Transcripts:ENST00000215781, ENST00000403389, ENST00000403463
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
406986835GWAS635811_Hsuicidal ideation QTL GWAS635811 (human)0.000004suicidal ideation223026357730263578Human
406988673GWAS637649_Hreticulocyte measurement QTL GWAS637649 (human)2e-10reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)223026452830264529Human
406994438GWAS643414_Hreticulocyte count QTL GWAS643414 (human)9e-13reticulocyte counttotal reticulocyte count (CMO:0003020)223026452830264529Human
407184848GWAS833824_Hleukocyte count QTL GWAS833824 (human)3e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)223026677430266775Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407243824GWAS892800_Hbody height QTL GWAS892800 (human)5e-14body height (VT:0001253)body height (CMO:0000106)223026357730263578Human
406998824GWAS647800_Hreticulocyte measurement QTL GWAS647800 (human)6e-12reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)223026452830264529Human

Markers in Region
GDB:194718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372230,659,854 - 30,660,307UniSTSGRCh37
Build 362228,989,854 - 28,990,307RGDNCBI36
Celera2214,459,537 - 14,459,990RGD
Cytogenetic Map22q12.2UniSTS
HuRef2213,621,634 - 13,622,087UniSTS
GDB:194719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372230,660,016 - 30,660,840UniSTSGRCh37
Build 362228,990,016 - 28,990,840RGDNCBI36
Celera2214,459,699 - 14,460,523RGD
Cytogenetic Map22q12.2UniSTS
HuRef2213,621,796 - 13,622,620UniSTS
GDB:452636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372230,659,212 - 30,659,419UniSTSGRCh37
Build 362228,989,212 - 28,989,419RGDNCBI36
Celera2214,458,895 - 14,459,102RGD
Cytogenetic Map22q12.2UniSTS
HuRef2213,620,992 - 13,621,199UniSTS
STS-M27288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372230,659,654 - 30,659,835UniSTSGRCh37
Build 362228,989,654 - 28,989,835RGDNCBI36
Celera2214,459,337 - 14,459,518RGD
Cytogenetic Map22q12.2UniSTS
HuRef2213,621,434 - 13,621,615UniSTS
GeneMap99-GB4 RH Map2288.23UniSTS
NCBI RH Map22125.2UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
1204 2337 2671 2237 4613 1694 2181 2 599 1920 439 2019 7007 6391 22 3618 811 1666 1476 164

Sequence


Ensembl Acc Id: ENST00000215781   ⟹   ENSP00000215781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2230,262,829 - 30,266,851 (-)Ensembl
Ensembl Acc Id: ENST00000403389   ⟹   ENSP00000383893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2230,263,868 - 30,265,818 (-)Ensembl
Ensembl Acc Id: ENST00000403463   ⟹   ENSP00000384543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2230,264,075 - 30,266,839 (-)Ensembl
RefSeq Acc Id: NM_001319108   ⟹   NP_001306037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,262,829 - 30,266,240 (-)NCBI
CHM1_12230,617,954 - 30,620,943 (-)NCBI
T2T-CHM13v2.02230,726,147 - 30,729,558 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020530   ⟹   NP_065391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,262,829 - 30,266,851 (-)NCBI
GRCh372230,658,817 - 30,662,829 (-)NCBI
Build 362228,988,818 - 28,992,840 (-)NCBI Archive
HuRef2213,620,598 - 13,624,609 (-)ENTREZGENE
CHM1_12230,617,954 - 30,621,969 (-)NCBI
T2T-CHM13v2.02230,726,147 - 30,730,169 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441387   ⟹   XP_047297343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,262,829 - 30,266,851 (-)NCBI
RefSeq Acc Id: XM_054325661   ⟹   XP_054181636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02230,726,147 - 30,730,077 (-)NCBI
RefSeq Acc Id: NP_065391   ⟸   NM_020530
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6FHP8 (UniProtKB/Swiss-Prot),   Q9UCP6 (UniProtKB/Swiss-Prot),   P13725 (UniProtKB/Swiss-Prot),   B5BUQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306037   ⟸   NM_001319108
- Peptide Label: isoform 2
- UniProtKB: B5MCX1 (UniProtKB/TrEMBL),   B5BUQ7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000215781   ⟸   ENST00000215781
Ensembl Acc Id: ENSP00000384543   ⟸   ENST00000403463
Ensembl Acc Id: ENSP00000383893   ⟸   ENST00000403389
RefSeq Acc Id: XP_047297343   ⟸   XM_047441387
- Peptide Label: isoform X1
- UniProtKB: B5MCX1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054181636   ⟸   XM_054325661
- Peptide Label: isoform X1
- UniProtKB: B5MCX1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13725-F1-model_v2 AlphaFold P13725 1-252 view protein structure

Promoters
RGD ID:6799857
Promoter ID:HG_KWN:42293
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403389
Position:
Human AssemblyChrPosition (strand)Source
Build 362228,991,341 - 28,992,737 (-)MPROMDB
RGD ID:6799860
Promoter ID:HG_KWN:42294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:ENST00000403463,   OTTHUMT00000320512
Position:
Human AssemblyChrPosition (strand)Source
Build 362228,992,831 - 28,993,742 (-)MPROMDB
RGD ID:13603674
Promoter ID:EPDNEW_H28021
Type:initiation region
Name:OSM_1
Description:oncostatin M
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382230,266,851 - 30,266,911EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8506 AgrOrtholog
COSMIC OSM COSMIC
Ensembl Genes ENSG00000099985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000215781 ENTREZGENE
  ENST00000215781.3 UniProtKB/Swiss-Prot
  ENST00000403389 ENTREZGENE
  ENST00000403389.1 UniProtKB/TrEMBL
  ENST00000403463.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099985 GTEx
HGNC ID HGNC:8506 ENTREZGENE
Human Proteome Map OSM Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leukemia_IF/oncostatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leukemia_IF/oncostatin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5008 UniProtKB/Swiss-Prot
NCBI Gene 5008 ENTREZGENE
OMIM 165095 OMIM
PANTHER ONCOSTATIN-M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIF_OSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32836 PharmGKB
PROSITE LIF_OSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIF_OSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B5BUQ7 ENTREZGENE, UniProtKB/TrEMBL
  B5MC70_HUMAN UniProtKB/TrEMBL
  B5MCX1 ENTREZGENE, UniProtKB/TrEMBL
  ONCM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6FHP8 ENTREZGENE
  Q9UCP6 ENTREZGENE
UniProt Secondary Q6FHP8 UniProtKB/Swiss-Prot
  Q9UCP6 UniProtKB/Swiss-Prot