MSR1 (macrophage scavenger receptor 1) - Rat Genome Database

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Gene: MSR1 (macrophage scavenger receptor 1) Homo sapiens
Analyze
Symbol: MSR1
Name: macrophage scavenger receptor 1
RGD ID: 1347158
HGNC Page HGNC
Description: Predicted to enable amyloid-beta binding activity; cargo receptor activity; and low-density lipoprotein particle binding activity. Predicted to be involved in several processes, including endocytosis; positive regulation of cholesterol storage; and positive regulation of macrophage derived foam cell differentiation. Predicted to act upstream of or within lipoprotein transport. Predicted to be located in plasma membrane. Predicted to be part of collagen trimer and low-density lipoprotein particle. Predicted to be active in external side of plasma membrane. Implicated in Barrett's esophagus; arteriosclerosis; and prostate cancer. Biomarker of severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD204; macrophage acetylated LDL receptor I and II; macrophage scavenger receptor type III; macrophage scavenger receptor types I and II; phSR1; phSR2; SCARA1; scavenger receptor class A member 1; scavenger receptor class A, member 1; SR-A; SR-AI; SR-AII; SR-AIII; SRA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl816,107,878 - 16,567,490 (-)EnsemblGRCh38hg38GRCh38
GRCh38816,107,881 - 16,192,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37815,965,390 - 16,050,160 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36816,009,758 - 16,094,671 (-)NCBINCBI36hg18NCBI36
Build 34816,009,760 - 16,094,595NCBI
Celera814,929,936 - 15,014,828 (-)NCBI
Cytogenetic Map8p22NCBI
HuRef814,509,923 - 14,594,638 (-)NCBIHuRef
CHM1_1816,167,312 - 16,251,899 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
acetamide  (ISO)
acrylamide  (ISO)
antirheumatic drug  (EXP)
apocynin  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
Calcimycin  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
cholesterol  (EXP)
choline  (ISO)
chrysene  (ISO)
curcumin  (EXP)
cycloheximide  (EXP)
demethoxycurcumin  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furosemide  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hydroxyl  (EXP)
irinotecan  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lipoic acid  (EXP)
lipopolysaccharide  (EXP,ISO)
mercury atom  (ISO)
mercury dichloride  (ISO)
mercury(0)  (ISO)
methyl methanesulfonate  (EXP)
miquelianin  (ISO)
Monobutylphthalate  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
procyanidin B3  (ISO)
quartz  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP)
sodium benzoate  (EXP)
tamibarotene  (EXP,ISO)
Tanshinone I  (ISO)
TEMPO  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (ISO)
valproic acid  (EXP)
zinc oxide  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1519666   PMID:2251254   PMID:8093617   PMID:8391600   PMID:8394868   PMID:8900177   PMID:9422792   PMID:9548586   PMID:10381284   PMID:11240025   PMID:11785981   PMID:12244320  
PMID:12376530   PMID:12471593   PMID:12477932   PMID:12819208   PMID:12839931   PMID:12958598   PMID:14614006   PMID:14695991   PMID:14759258   PMID:15042613   PMID:15489334   PMID:15556945  
PMID:15714208   PMID:15734964   PMID:15824169   PMID:16114055   PMID:16144911   PMID:16287155   PMID:16344560   PMID:16425212   PMID:16598737   PMID:16750665   PMID:17207965   PMID:17237231  
PMID:17361499   PMID:17627168   PMID:17709607   PMID:17768178   PMID:17805225   PMID:18398045   PMID:18436282   PMID:18503826   PMID:18566991   PMID:18660489   PMID:18676680   PMID:18827892  
PMID:18922854   PMID:19120472   PMID:19170196   PMID:19261092   PMID:19625176   PMID:19692168   PMID:19715475   PMID:19790077   PMID:19911804   PMID:19913121   PMID:19914718   PMID:20081102  
PMID:20086112   PMID:20338659   PMID:20379614   PMID:20384632   PMID:20410100   PMID:20414830   PMID:20485444   PMID:20628086   PMID:20717903   PMID:20802348   PMID:21077973   PMID:21203986  
PMID:21280004   PMID:21460221   PMID:21565611   PMID:21596859   PMID:21658363   PMID:21790861   PMID:21873635   PMID:22282357   PMID:22429811   PMID:22470185   PMID:22470186   PMID:22687273  
PMID:22763563   PMID:22878280   PMID:23334594   PMID:23648122   PMID:23717201   PMID:23915271   PMID:24278429   PMID:24419414   PMID:24498098   PMID:24604828   PMID:24718459   PMID:24839953  
PMID:25186548   PMID:25416956   PMID:25620088   PMID:25965346   PMID:26001293   PMID:26056009   PMID:26225686   PMID:26892079   PMID:27342912   PMID:27367025   PMID:27378395   PMID:27601677  
PMID:28202524   PMID:28213380   PMID:28298427   PMID:28514442   PMID:28639912   PMID:29326120   PMID:29680370   PMID:29850577   PMID:30850160   PMID:31028084   PMID:31177112   PMID:31248969  
PMID:31386800   PMID:31515488   PMID:31799941   PMID:31972266   PMID:32296183  


Genomics

Candidate Gene Status
MSR1 is a candidate Gene for QTL PRSTS281_H
MSR1 is a candidate Gene for QTL PRSTS279_H
MSR1 is a candidate Gene for QTL PRSTS204_H
MSR1 is a candidate Gene for QTL PRSTS432_H
MSR1 is a candidate Gene for QTL GLUCO109_H
MSR1 is a candidate Gene for QTL BW512_H
Comparative Map Data
MSR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl816,107,878 - 16,567,490 (-)EnsemblGRCh38hg38GRCh38
GRCh38816,107,881 - 16,192,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37815,965,390 - 16,050,160 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36816,009,758 - 16,094,671 (-)NCBINCBI36hg18NCBI36
Build 34816,009,760 - 16,094,595NCBI
Celera814,929,936 - 15,014,828 (-)NCBI
Cytogenetic Map8p22NCBI
HuRef814,509,923 - 14,594,638 (-)NCBIHuRef
CHM1_1816,167,312 - 16,251,899 (-)NCBICHM1_1
Msr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39839,996,284 - 40,095,790 (-)NCBIGRCm39mm39
GRCm39 Ensembl840,034,726 - 40,095,714 (-)Ensembl
GRCm38839,543,232 - 39,642,750 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl839,581,685 - 39,642,673 (-)EnsemblGRCm38mm10GRCm38
MGSCv37840,667,054 - 40,728,032 (-)NCBIGRCm37mm9NCBIm37
MGSCv36841,102,269 - 41,141,495 (-)NCBImm8
Celera842,254,529 - 42,315,500 (-)NCBICelera
Cytogenetic Map8A4NCBI
cM Map823.89NCBI
Msr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21652,717,775 - 52,802,890 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1652,717,732 - 52,799,676 (+)Ensembl
Rnor_6.01656,817,714 - 56,900,025 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1656,813,791 - 56,900,052 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01656,516,982 - 56,597,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41656,278,223 - 56,345,472 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1650,621,592 - 50,686,791 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
Msr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554631,197,022 - 1,264,765 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554631,197,086 - 1,263,943 (+)NCBIChiLan1.0ChiLan1.0
MSR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1812,091,543 - 12,175,927 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl812,088,873 - 12,175,927 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0815,335,795 - 15,421,472 (-)NCBIMhudiblu_PPA_v0panPan3
MSR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11639,434,948 - 39,513,727 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1639,436,753 - 39,527,438 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1639,918,454 - 39,996,751 (-)NCBI
ROS_Cfam_1.01641,487,019 - 41,565,417 (-)NCBI
UMICH_Zoey_3.11639,583,887 - 39,662,157 (-)NCBI
UNSW_CanFamBas_1.01640,129,035 - 40,207,399 (-)NCBI
UU_Cfam_GSD_1.01640,253,347 - 40,331,889 (-)NCBI
Msr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494339,750,600 - 39,814,340 (+)NCBI
SpeTri2.0NW_0049365735,345,282 - 5,391,946 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl173,857,171 - 3,939,726 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1173,859,903 - 3,939,612 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2174,110,409 - 4,191,629 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1814,221,389 - 14,305,059 (-)NCBI
ChlSab1.1 Ensembl814,220,529 - 14,304,946 (-)Ensembl
Vero_WHO_p1.0NW_02366605228,000,740 - 28,084,945 (+)NCBI
Msr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624839694,149 - 769,322 (+)NCBI

Position Markers
RH17755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37816,050,323 - 16,050,479UniSTSGRCh37
Build 36816,094,694 - 16,094,850RGDNCBI36
Celera815,014,851 - 15,015,007RGD
Cytogenetic Map8p22UniSTS
HuRef814,594,661 - 14,594,817UniSTS
D8S1193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37816,029,871 - 16,029,955UniSTSGRCh37
Build 36816,074,242 - 16,074,326RGDNCBI36
Celera814,994,401 - 14,994,485RGD
Cytogenetic Map8p22UniSTS
HuRef814,574,395 - 14,574,479UniSTS
GDB:580807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37816,026,072 - 16,026,173UniSTSGRCh37
Build 36816,070,443 - 16,070,544RGDNCBI36
Celera814,990,603 - 14,990,704RGD
Cytogenetic Map8p22UniSTS
HuRef814,570,597 - 14,570,698UniSTS
PMC310830P18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37815,977,950 - 15,978,088UniSTSGRCh37
Build 36816,022,321 - 16,022,459RGDNCBI36
Celera814,942,500 - 14,942,638RGD
Cytogenetic Map8p22UniSTS
HuRef814,522,488 - 14,522,626UniSTS
PMC310830P19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37816,021,606 - 16,021,748UniSTSGRCh37
Build 36816,065,977 - 16,066,119RGDNCBI36
Celera814,986,141 - 14,986,283RGD
Cytogenetic Map8p22UniSTS
HuRef814,566,136 - 14,566,278UniSTS
PMC310830P21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37816,050,308 - 16,050,456UniSTSGRCh37
Build 36816,094,679 - 16,094,827RGDNCBI36
Celera815,014,836 - 15,014,984RGD
Cytogenetic Map8p22UniSTS
HuRef814,594,646 - 14,594,794UniSTS
SHGC-12479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37815,967,005 - 15,967,332UniSTSGRCh37
Build 36816,011,376 - 16,011,703RGDNCBI36
Celera814,931,554 - 14,931,881RGD
Cytogenetic Map8p22UniSTS
HuRef814,511,541 - 14,511,868UniSTS
Stanford-G3 RH Map8721.0UniSTS
GeneMap99-GB4 RH Map848.14UniSTS
Whitehead-RH Map847.1UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8169.0UniSTS
GeneMap99-G3 RH Map8808.0UniSTS
RH47928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37815,982,877 - 15,983,001UniSTSGRCh37
Build 36816,027,248 - 16,027,372RGDNCBI36
Celera814,947,424 - 14,947,548RGD
Cytogenetic Map8p22UniSTS
HuRef814,527,417 - 14,527,541UniSTS
GeneMap99-GB4 RH Map856.06UniSTS
NCBI RH Map8172.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3137
Count of miRNA genes:1119
Interacting mature miRNAs:1349
Transcripts:ENST00000262101, ENST00000350896, ENST00000355282, ENST00000381998, ENST00000445506, ENST00000517522, ENST00000518026, ENST00000518343, ENST00000518960, ENST00000519060, ENST00000520846, ENST00000521876, ENST00000522130, ENST00000522672, ENST00000536385
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 43 411 96 63 124 50 506 18 171 84 87 620 14 547 159 1
Low 2139 2143 1377 412 1121 277 2516 1264 2097 284 1148 738 138 652 1821 1
Below cutoff 170 426 242 141 307 129 1182 887 1421 42 173 144 17 1 5 808 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA995755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ144993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA885108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262101   ⟹   ENSP00000262101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,107,881 - 16,192,651 (-)Ensembl
RefSeq Acc Id: ENST00000350896   ⟹   ENSP00000262100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,107,878 - 16,192,791 (-)Ensembl
RefSeq Acc Id: ENST00000355282   ⟹   ENSP00000347430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,110,085 - 16,177,988 (-)Ensembl
RefSeq Acc Id: ENST00000381998   ⟹   ENSP00000371428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,139,319 - 16,192,659 (-)Ensembl
RefSeq Acc Id: ENST00000445506   ⟹   ENSP00000405453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,110,046 - 16,186,272 (-)Ensembl
RefSeq Acc Id: ENST00000517522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,368,086 - 16,383,328 (-)Ensembl
RefSeq Acc Id: ENST00000518026   ⟹   ENSP00000429498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,175,263 - 16,567,362 (-)Ensembl
RefSeq Acc Id: ENST00000518343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,256,331 - 16,567,420 (-)Ensembl
RefSeq Acc Id: ENST00000518960   ⟹   ENSP00000427905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,175,210 - 16,215,074 (-)Ensembl
RefSeq Acc Id: ENST00000519060   ⟹   ENSP00000428865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,140,655 - 16,192,651 (-)Ensembl
RefSeq Acc Id: ENST00000520846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,467,752 - 16,495,880 (-)Ensembl
RefSeq Acc Id: ENST00000521876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,250,398 - 16,511,916 (-)Ensembl
RefSeq Acc Id: ENST00000522130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,467,764 - 16,567,490 (-)Ensembl
RefSeq Acc Id: ENST00000522672   ⟹   ENSP00000430536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl816,120,889 - 16,164,251 (-)Ensembl
RefSeq Acc Id: NM_001363744   ⟹   NP_001350673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,107,881 - 16,186,272 (-)NCBI
RefSeq Acc Id: NM_002445   ⟹   NP_002436
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,139,317 - 16,192,651 (-)NCBI
GRCh37815,965,387 - 16,050,300 (-)ENTREZGENE
Build 36816,041,197 - 16,094,671 (-)NCBI Archive
HuRef814,509,923 - 14,594,638 (-)ENTREZGENE
CHM1_1816,198,739 - 16,251,899 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138715   ⟹   NP_619729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,107,881 - 16,192,651 (-)NCBI
GRCh37815,965,387 - 16,050,300 (-)ENTREZGENE
Build 36816,009,758 - 16,094,671 (-)NCBI Archive
HuRef814,509,923 - 14,594,638 (-)ENTREZGENE
CHM1_1816,167,312 - 16,251,899 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138716   ⟹   NP_619730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,107,881 - 16,192,651 (-)NCBI
GRCh37815,965,387 - 16,050,300 (-)NCBI
Build 36816,009,758 - 16,094,671 (-)NCBI Archive
HuRef814,509,923 - 14,594,638 (-)ENTREZGENE
CHM1_1816,167,312 - 16,251,899 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447161   ⟹   XP_024302929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,140,268 - 16,186,267 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_619730   ⟸   NM_138716
- Peptide Label: isoform type 3
- UniProtKB: P21757 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_619729   ⟸   NM_138715
- Peptide Label: isoform type 1
- UniProtKB: P21757 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002436   ⟸   NM_002445
- Peptide Label: isoform type 2
- UniProtKB: P21757 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302929   ⟸   XM_024447161
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350673   ⟸   NM_001363744
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000427905   ⟸   ENST00000518960
RefSeq Acc Id: ENSP00000429498   ⟸   ENST00000518026
RefSeq Acc Id: ENSP00000428865   ⟸   ENST00000519060
RefSeq Acc Id: ENSP00000262100   ⟸   ENST00000350896
RefSeq Acc Id: ENSP00000430536   ⟸   ENST00000522672
RefSeq Acc Id: ENSP00000405453   ⟸   ENST00000445506
RefSeq Acc Id: ENSP00000262101   ⟸   ENST00000262101
RefSeq Acc Id: ENSP00000347430   ⟸   ENST00000355282
RefSeq Acc Id: ENSP00000371428   ⟸   ENST00000381998
Protein Domains
Collagen-like   SRCR

Promoters
RGD ID:7212679
Promoter ID:EPDNEW_H12085
Type:initiation region
Name:MSR1_2
Description:macrophage scavenger receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12086  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,186,272 - 16,186,332EPDNEW
RGD ID:7212681
Promoter ID:EPDNEW_H12086
Type:initiation region
Name:MSR1_1
Description:macrophage scavenger receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12085  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38816,192,651 - 16,192,711EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_138715.3(MSR1):c.760C>G (p.Leu254Val) single nucleotide variant Barrett esophagus/esophageal adenocarcinoma [RCV000022646] Chr8:16164122 [GRCh38]
Chr8:16021631 [GRCh37]
Chr8:8p22
pathogenic
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) single nucleotide variant Alport syndrome 1, X-linked recessive [RCV001258304]|Hereditary cancer-predisposing syndrome [RCV000210798]|Malignant tumor of prostate [RCV000015431]|not provided [RCV000481066] Chr8:16155085 [GRCh38]
Chr8:16012594 [GRCh37]
Chr8:8p22
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr) single nucleotide variant Malignant tumor of prostate [RCV000015432] Chr8:16168568 [GRCh38]
Chr8:16026077 [GRCh37]
Chr8:8p22
pathogenic|uncertain significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22(chr8:15814812-16351017)x3 copy number gain See cases [RCV000050549] Chr8:15814812..16351017 [GRCh38]
Chr8:15672321..16208526 [GRCh37]
Chr8:15716692..16252897 [NCBI36]
Chr8:8p22
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p22(chr8:16094302-16746208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052752]|See cases [RCV000052752] Chr8:16094302..16746208 [GRCh38]
Chr8:15951811..16603717 [GRCh37]
Chr8:15996182..16648088 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p22(chr8:16095273-16164235)x1 copy number loss See cases [RCV000052753] Chr8:16095273..16164235 [GRCh38]
Chr8:15952782..16021744 [GRCh37]
Chr8:15997153..16066115 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_138715.2(MSR1):c.1274C>A (p.Ser425Tyr) single nucleotide variant Malignant melanoma [RCV000068221] Chr8:16110167 [GRCh38]
Chr8:15967676 [GRCh37]
Chr8:16012047 [NCBI36]
Chr8:8p22
not provided
NM_138715.2(MSR1):c.1262G>A (p.Gly421Glu) single nucleotide variant Malignant melanoma [RCV000068222] Chr8:16110179 [GRCh38]
Chr8:15967688 [GRCh37]
Chr8:16012059 [NCBI36]
Chr8:8p22
not provided
GRCh38/hg38 8p22(chr8:16094502-16164176)x1 copy number loss See cases [RCV000134354] Chr8:16094502..16164176 [GRCh38]
Chr8:15952011..16021685 [GRCh37]
Chr8:15996382..16066056 [NCBI36]
Chr8:8p22
benign|likely benign|conflicting data from submitters
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p22(chr8:15424539-16122483)x3 copy number gain See cases [RCV000135945] Chr8:15424539..16122483 [GRCh38]
Chr8:15282048..15979992 [GRCh37]
Chr8:15326419..16024363 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22(chr8:15792228-16383519)x3 copy number gain See cases [RCV000137715] Chr8:15792228..16383519 [GRCh38]
Chr8:15649737..16241028 [GRCh37]
Chr8:15694108..16285399 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22(chr8:15843813-16471695)x3 copy number gain See cases [RCV000137975] Chr8:15843813..16471695 [GRCh38]
Chr8:15701322..16329204 [GRCh37]
Chr8:15745693..16373575 [NCBI36]
Chr8:8p22
likely pathogenic|likely benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22(chr8:15814811-16351065)x3 copy number gain See cases [RCV000139145] Chr8:15814811..16351065 [GRCh38]
Chr8:15672320..16208574 [GRCh37]
Chr8:15716691..16252945 [NCBI36]
Chr8:8p22
likely benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22
pathogenic
GRCh38/hg38 8p22(chr8:16016852-16217064)x1 copy number loss See cases [RCV000141851] Chr8:16016852..16217064 [GRCh38]
Chr8:15874361..16074573 [GRCh37]
Chr8:15918732..16118944 [NCBI36]
Chr8:8p22
uncertain significance
GRCh38/hg38 8p22(chr8:15784703-16404943)x3 copy number gain See cases [RCV000141643] Chr8:15784703..16404943 [GRCh38]
Chr8:15642212..16262452 [GRCh37]
Chr8:15686583..16306823 [NCBI36]
Chr8:8p22
likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p22(chr8:15814812-16351017)x3 copy number gain See cases [RCV000148191] Chr8:15814812..16351017 [GRCh38]
Chr8:15672321..16208526 [GRCh37]
Chr8:15716692..16252897 [NCBI36]
Chr8:8p22
uncertain significance
Single allele deletion Large for gestational age [RCV000161528]|Normal pregnancy [RCV000161527] Chr8:16090726..16168455 [GRCh38]
Chr8:15948235..16025964 [GRCh37]
Chr8:8p22
not provided
GRCh37/hg19 8p22(chr8:15249009-16017680)x1 copy number loss See cases [RCV000203426] Chr8:15249009..16017680 [GRCh37]
Chr8:8p22
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p22(chr8:16081832-16163959)x1 copy number loss Premature ovarian failure [RCV000225297] Chr8:16081832..16163959 [GRCh38]
Chr8:15939341..16021468 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12490998-16397340)x3 copy number gain See cases [RCV000448250] Chr8:12490998..16397340 [GRCh37]
Chr8:8p23.1-22
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_138715.3(MSR1):c.1033+1G>C single nucleotide variant not provided [RCV000594811] Chr8:16143557 [GRCh38]
Chr8:16001066 [GRCh37]
Chr8:8p22
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p22(chr8:13587890-16409759)x1 copy number loss not provided [RCV000683021] Chr8:13587890..16409759 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p22(chr8:15948235-16021468)x1 copy number loss not provided [RCV000747436] Chr8:15948235..16021468 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p22(chr8:15948235-16025964)x1 copy number loss not provided [RCV000747437] Chr8:15948235..16025964 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.818-1G>A single nucleotide variant not provided [RCV000762499] Chr8:16155145 [GRCh38]
Chr8:16012654 [GRCh37]
Chr8:8p22
likely pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_138715.3(MSR1):c.103+1G>T single nucleotide variant not provided [RCV000924728] Chr8:16177885 [GRCh38]
Chr8:16035394 [GRCh37]
Chr8:8p22
likely benign
NM_138715.3(MSR1):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV000883921] Chr8:16120446 [GRCh38]
Chr8:15977955 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.1034-8C>A single nucleotide variant not provided [RCV000923369] Chr8:16120614 [GRCh38]
Chr8:15978123 [GRCh37]
Chr8:8p22
likely benign
NM_138715.3(MSR1):c.542T>A (p.Ile181Lys) single nucleotide variant not provided [RCV000903953] Chr8:16168546 [GRCh38]
Chr8:16026055 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.1034-15_1034-10del deletion not provided [RCV000964300] Chr8:16120616..16120621 [GRCh38]
Chr8:15978125..15978130 [GRCh37]
Chr8:8p22
likely benign
NM_138715.3(MSR1):c.1033+10T>C single nucleotide variant not provided [RCV000886672] Chr8:16143548 [GRCh38]
Chr8:16001057 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.630+3A>G single nucleotide variant not provided [RCV000953577] Chr8:16168455 [GRCh38]
Chr8:16025964 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.1038A>G (p.Pro346=) single nucleotide variant not provided [RCV000959678] Chr8:16120602 [GRCh38]
Chr8:15978111 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.338T>C (p.Val113Ala) single nucleotide variant not provided [RCV000998998] Chr8:16168750 [GRCh38]
Chr8:16026259 [GRCh37]
Chr8:8p22
uncertain significance
NM_138715.3(MSR1):c.218-4A>G single nucleotide variant not provided [RCV000998999] Chr8:16168874 [GRCh38]
Chr8:16026383 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22(chr8:14515179-16846319)x3 copy number gain not provided [RCV000846140] Chr8:14515179..16846319 [GRCh37]
Chr8:8p22
uncertain significance
NM_138715.3(MSR1):c.833C>T (p.Pro278Leu) single nucleotide variant not provided [RCV000998997] Chr8:16155129 [GRCh38]
Chr8:16012638 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_138715.3(MSR1):c.1128C>T (p.Asp376=) single nucleotide variant not provided [RCV000963358] Chr8:16120512 [GRCh38]
Chr8:15978021 [GRCh37]
Chr8:8p22
benign
NM_138715.3(MSR1):c.1014G>A (p.Lys338=) single nucleotide variant not provided [RCV000886829] Chr8:16143577 [GRCh38]
Chr8:16001086 [GRCh37]
Chr8:8p22
benign
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
NM_138715.3(MSR1):c.898+1G>C single nucleotide variant Barrett esophagus [RCV001332903] Chr8:16155063 [GRCh38]
Chr8:16012572 [GRCh37]
Chr8:8p22
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_138715.3(MSR1):c.860_861insG (p.Gly288fs) insertion Barrett esophagus [RCV001294144] Chr8:16155101..16155102 [GRCh38]
Chr8:16012610..16012611 [GRCh37]
Chr8:8p22
pathogenic
NM_138715.3(MSR1):c.279_280del (p.Thr94fs) deletion Barrett esophagus [RCV001336948] Chr8:16168808..16168809 [GRCh38]
Chr8:16026317..16026318 [GRCh37]
Chr8:8p22
pathogenic
NM_138715.3(MSR1):c.850C>T (p.Arg284Ter) single nucleotide variant Barrett esophagus [RCV001336949] Chr8:16155112 [GRCh38]
Chr8:16012621 [GRCh37]
Chr8:8p22
pathogenic
NM_138715.3(MSR1):c.919G>T (p.Asp307Tyr) single nucleotide variant not provided [RCV001355242] Chr8:16150291 [GRCh38]
Chr8:16007800 [GRCh37]
Chr8:8p22
uncertain significance
GRCh37/hg19 8p22(chr8:15721096-16208574)x3 copy number gain See cases [RCV001310292] Chr8:15721096..16208574 [GRCh37]
Chr8:8p22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7376 AgrOrtholog
COSMIC MSR1 COSMIC
Ensembl Genes ENSG00000038945 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262100 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000262101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000347430 UniProtKB/Swiss-Prot
  ENSP00000371428 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405453 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000427905 UniProtKB/TrEMBL
  ENSP00000428865 UniProtKB/TrEMBL
  ENSP00000429498 UniProtKB/TrEMBL
  ENSP00000430536 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262101 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000350896 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355282 UniProtKB/Swiss-Prot
  ENST00000381998 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000445506 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518026 UniProtKB/TrEMBL
  ENST00000518960 UniProtKB/TrEMBL
  ENST00000519060 UniProtKB/TrEMBL
  ENST00000522672 UniProtKB/TrEMBL
Gene3D-CATH 3.10.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000038945 GTEx
HGNC ID HGNC:7376 ENTREZGENE
Human Proteome Map MSR1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macro_scav_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4481 UniProtKB/Swiss-Prot
NCBI Gene 4481 ENTREZGENE
OMIM 153622 OMIM
  614266 OMIM
PANTHER PTHR19331:SF440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macscav_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31181 PharmGKB
PRINTS MACSCAVRCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERACTRCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SRCR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DDJ5_HUMAN UniProtKB/TrEMBL
  E5RFI4_HUMAN UniProtKB/TrEMBL
  E5RFW8_HUMAN UniProtKB/TrEMBL
  E5RI91_HUMAN UniProtKB/TrEMBL
  H0YBY2_HUMAN UniProtKB/TrEMBL
  MSRE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DSP3 UniProtKB/Swiss-Prot
  O60505 UniProtKB/Swiss-Prot
  P21759 UniProtKB/Swiss-Prot
  Q45F10 UniProtKB/Swiss-Prot