ERMP1 (endoplasmic reticulum metallopeptidase 1) - Rat Genome Database

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Gene: ERMP1 (endoplasmic reticulum metallopeptidase 1) Homo sapiens
Analyze
Symbol: ERMP1
Name: endoplasmic reticulum metallopeptidase 1
RGD ID: 1348332
HGNC Page HGNC:23703
Description: Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: aminopeptidase Fxna; bA207C16.3; bA207C16.3 (novel protein similar to predicted yeast, plant and worm proteins); Felix-ina; FXNA; KIAA1815
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
GRCh3895,784,572 - 5,867,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,749,832 - 5,879,537 (-)EnsemblGRCh38hg38GRCh38
GRCh3795,784,572 - 5,833,117 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,774,572 - 5,823,081 (-)NCBINCBI36Build 36hg18NCBI36
Celera95,722,060 - 5,770,569 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,740,441 - 5,788,955 (-)NCBIHuRef
CHM1_195,785,246 - 5,833,752 (-)NCBICHM1_1
T2T-CHM13v2.095,789,712 - 5,872,233 (-)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
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5-aza-2'-deoxycytidine  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bisphenol A  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nefazodone  (ISO)
Nivalenol  (ISO)
p-toluidine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
resveratrol  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# 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
Additional References at PubMed
PMID:11347906   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:17267443   PMID:19322201   PMID:19946888   PMID:21873635   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26760575   PMID:27342126   PMID:27566589   PMID:28514442   PMID:29117863   PMID:29509190   PMID:29523216   PMID:31527615   PMID:32296183   PMID:32344865   PMID:33022573   PMID:33024031  
PMID:33545068   PMID:33845483   PMID:33961781   PMID:35007762   PMID:35271311   PMID:35696571   PMID:35944360   PMID:36215168   PMID:36949045   PMID:37827155  


Genomics

Comparative Map Data
ERMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,784,572 - 5,867,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,749,832 - 5,879,537 (-)EnsemblGRCh38hg38GRCh38
GRCh3795,784,572 - 5,833,117 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,774,572 - 5,823,081 (-)NCBINCBI36Build 36hg18NCBI36
Celera95,722,060 - 5,770,569 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,740,441 - 5,788,955 (-)NCBIHuRef
CHM1_195,785,246 - 5,833,752 (-)NCBICHM1_1
T2T-CHM13v2.095,789,712 - 5,872,233 (-)NCBIT2T-CHM13v2.0
Ermp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,587,276 - 29,625,815 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1929,585,614 - 29,625,815 (-)EnsemblGRCm39 Ensembl
GRCm381929,609,876 - 29,648,415 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,608,214 - 29,648,415 (-)EnsemblGRCm38mm10GRCm38
MGSCv371929,684,373 - 29,722,910 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361929,675,880 - 29,714,417 (-)NCBIMGSCv36mm8
Celera1930,386,377 - 30,425,138 (-)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1924.17NCBI
Ermp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81236,801,459 - 236,835,656 (-)NCBIGRCr8
mRatBN7.21227,383,992 - 227,422,120 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1227,387,920 - 227,436,909 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,789,751 - 235,823,887 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01242,719,424 - 242,753,558 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01235,532,581 - 235,573,223 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,784,830 - 247,821,771 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,787,582 - 247,821,728 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01255,038,053 - 255,072,617 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,326,954 - 233,361,107 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11233,490,983 - 233,525,130 (-)NCBI
Celera1224,538,820 - 224,572,973 (-)NCBICelera
Cytogenetic Map1q52NCBI
Ermp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,778,465 - 9,824,973 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,772,667 - 9,825,048 (-)NCBIChiLan1.0ChiLan1.0
ERMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211118,738,190 - 118,833,420 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19118,744,137 - 118,839,367 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v095,605,122 - 5,653,661 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.195,787,920 - 5,836,388 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,787,920 - 5,836,388 (-)Ensemblpanpan1.1panPan2
ERMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,845,874 - 94,008,266 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,846,269 - 93,957,359 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha194,288,746 - 94,329,646 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0194,437,949 - 94,478,892 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl194,437,995 - 94,549,556 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1194,068,812 - 94,109,665 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,793,817 - 93,834,760 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0194,556,449 - 94,597,352 (-)NCBIUU_Cfam_GSD_1.0
Ermp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947141,942,912 - 141,998,930 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936539408,015 - 451,783 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936539395,671 - 451,611 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,312,615 - 216,396,296 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,312,827 - 216,382,063 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,045,563 - 242,114,516 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11273,639,125 - 73,725,090 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603862,051,719 - 62,108,495 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ermp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473610,345,718 - 10,394,356 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473610,311,868 - 10,393,851 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERMP1
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_024896.2(ERMP1):c.1567C>T (p.Leu523=) single nucleotide variant Malignant melanoma [RCV000068684] Chr9:5805767 [GRCh38]
Chr9:5805767 [GRCh37]
Chr9:5795767 [NCBI36]
Chr9:9p24.1		 not provided
NM_001135920.2(RIC1):c.3409G>A (p.Gly1137Arg) single nucleotide variant Malignant melanoma [RCV000068683] Chr9:5769241 [GRCh38]
Chr9:5769241 [GRCh37]
Chr9:5759241 [NCBI36]
Chr9:9p24.1		 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5598936-5883409)x1 copy number loss See cases [RCV000510614] Chr9:5598936..5883409 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
NM_024896.3(ERMP1):c.1652T>C (p.Phe551Ser) single nucleotide variant Inborn genetic diseases [RCV003288739] Chr9:5805682 [GRCh38]
Chr9:5805682 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.604G>A (p.Ala202Thr) single nucleotide variant Inborn genetic diseases [RCV003265227] Chr9:5830763 [GRCh38]
Chr9:5830763 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1303A>C (p.Lys435Gln) single nucleotide variant Inborn genetic diseases [RCV003291247] Chr9:5811135 [GRCh38]
Chr9:5811135 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.1(chr9:5449153-5900427)x1 copy number loss not provided [RCV000683121] Chr9:5449153..5900427 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5774225-5816033)x1 copy number loss not provided [RCV000748146] Chr9:5774225..5816033 [GRCh37]
Chr9:9p24.1		 benign
NM_024896.3(ERMP1):c.1593G>A (p.Ser531=) single nucleotide variant not provided [RCV000971770] Chr9:5805741 [GRCh38]
Chr9:5805741 [GRCh37]
Chr9:9p24.1		 benign
NM_024896.3(ERMP1):c.1283T>G (p.Val428Gly) single nucleotide variant not provided [RCV000937524] Chr9:5811155 [GRCh38]
Chr9:5811155 [GRCh37]
Chr9:9p24.1		 benign
NM_024896.3(ERMP1):c.1181A>G (p.Tyr394Cys) single nucleotide variant not provided [RCV000900057] Chr9:5811257 [GRCh38]
Chr9:5811257 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_024896.3(ERMP1):c.1021+6T>C single nucleotide variant not provided [RCV000953270] Chr9:5812883 [GRCh38]
Chr9:5812883 [GRCh37]
Chr9:9p24.1		 likely benign
NM_024896.3(ERMP1):c.1212G>A (p.Val404=) single nucleotide variant not provided [RCV000956699] Chr9:5811226 [GRCh38]
Chr9:5811226 [GRCh37]
Chr9:9p24.1		 benign
NM_024896.3(ERMP1):c.2427G>A (p.Gly809=) single nucleotide variant not provided [RCV000889703] Chr9:5787553 [GRCh38]
Chr9:5787553 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5777250-5883366)x1 copy number loss not provided [RCV002472736] Chr9:5777250..5883366 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2384C>T (p.Thr795Ile) single nucleotide variant Inborn genetic diseases [RCV003242540] Chr9:5797819 [GRCh38]
Chr9:5797819 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
Single allele duplication not provided [RCV002266756] Chr9:4954044..5872261 [GRCh38]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
NM_024896.3(ERMP1):c.536A>G (p.Tyr179Cys) single nucleotide variant Inborn genetic diseases [RCV002970564] Chr9:5830831 [GRCh38]
Chr9:5830831 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2705T>C (p.Phe902Ser) single nucleotide variant Inborn genetic diseases [RCV002860437] Chr9:5787154 [GRCh38]
Chr9:5787154 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.111G>C (p.Glu37Asp) single nucleotide variant Inborn genetic diseases [RCV002773003] Chr9:5832917 [GRCh38]
Chr9:5832917 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1673C>T (p.Ala558Val) single nucleotide variant Inborn genetic diseases [RCV002683056] Chr9:5805661 [GRCh38]
Chr9:5805661 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1700T>G (p.Val567Gly) single nucleotide variant Inborn genetic diseases [RCV002778191] Chr9:5805634 [GRCh38]
Chr9:5805634 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.688C>T (p.Arg230Cys) single nucleotide variant Inborn genetic diseases [RCV002841436] Chr9:5825172 [GRCh38]
Chr9:5825172 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.871A>T (p.Thr291Ser) single nucleotide variant Inborn genetic diseases [RCV002849284] Chr9:5823899 [GRCh38]
Chr9:5823899 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1478G>T (p.Cys493Phe) single nucleotide variant Inborn genetic diseases [RCV002798421] Chr9:5810081 [GRCh38]
Chr9:5810081 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2603A>C (p.Tyr868Ser) single nucleotide variant Inborn genetic diseases [RCV002691822] Chr9:5787256 [GRCh38]
Chr9:5787256 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1687A>G (p.Thr563Ala) single nucleotide variant Inborn genetic diseases [RCV002886863] Chr9:5805647 [GRCh38]
Chr9:5805647 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1721A>G (p.His574Arg) single nucleotide variant Inborn genetic diseases [RCV002911014] Chr9:5805613 [GRCh38]
Chr9:5805613 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2707G>A (p.Val903Ile) single nucleotide variant Inborn genetic diseases [RCV003000419] Chr9:5787152 [GRCh38]
Chr9:5787152 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2309G>A (p.Arg770Lys) single nucleotide variant Inborn genetic diseases [RCV002980990] Chr9:5797894 [GRCh38]
Chr9:5797894 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1388C>T (p.Thr463Ile) single nucleotide variant Inborn genetic diseases [RCV002799903] Chr9:5810171 [GRCh38]
Chr9:5810171 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.581A>G (p.Asp194Gly) single nucleotide variant Inborn genetic diseases [RCV002783022] Chr9:5830786 [GRCh38]
Chr9:5830786 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1291T>A (p.Tyr431Asn) single nucleotide variant Inborn genetic diseases [RCV002767025] Chr9:5811147 [GRCh38]
Chr9:5811147 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2617G>A (p.Asp873Asn) single nucleotide variant Inborn genetic diseases [RCV002985212] Chr9:5787242 [GRCh38]
Chr9:5787242 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2095G>A (p.Glu699Lys) single nucleotide variant Inborn genetic diseases [RCV002763278] Chr9:5798981 [GRCh38]
Chr9:5798981 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.901G>A (p.Ala301Thr) single nucleotide variant Inborn genetic diseases [RCV002804439] Chr9:5813009 [GRCh38]
Chr9:5813009 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.799T>A (p.Trp267Arg) single nucleotide variant Inborn genetic diseases [RCV002939615] Chr9:5823971 [GRCh38]
Chr9:5823971 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2456A>G (p.Asn819Ser) single nucleotide variant Inborn genetic diseases [RCV002674189] Chr9:5787524 [GRCh38]
Chr9:5787524 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1255A>G (p.Ile419Val) single nucleotide variant Inborn genetic diseases [RCV002936637] Chr9:5811183 [GRCh38]
Chr9:5811183 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1941C>G (p.Ser647Arg) single nucleotide variant Inborn genetic diseases [RCV002896154] Chr9:5801302 [GRCh38]
Chr9:5801302 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1159A>G (p.Met387Val) single nucleotide variant Inborn genetic diseases [RCV003198428] Chr9:5811279 [GRCh38]
Chr9:5811279 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.2248C>A (p.Leu750Ile) single nucleotide variant Inborn genetic diseases [RCV003212640] Chr9:5798828 [GRCh38]
Chr9:5798828 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.206C>G (p.Ser69Cys) single nucleotide variant Inborn genetic diseases [RCV003363256] Chr9:5832822 [GRCh38]
Chr9:5832822 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.65G>A (p.Gly22Glu) single nucleotide variant Inborn genetic diseases [RCV003363706] Chr9:5832963 [GRCh38]
Chr9:5832963 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_024896.3(ERMP1):c.179C>T (p.Ala60Val) single nucleotide variant not provided [RCV003435704] Chr9:5832849 [GRCh38]
Chr9:5832849 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_024896.3(ERMP1):c.2043G>A (p.Pro681=) single nucleotide variant not provided [RCV003886083] Chr9:5801200 [GRCh38]
Chr9:5801200 [GRCh37]
Chr9:9p24.1		 likely benign
NM_024896.3(ERMP1):c.286G>C (p.Val96Leu) single nucleotide variant Inborn genetic diseases [RCV003357458] Chr9:5832742 [GRCh38]
Chr9:5832742 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.938T>C (p.Val313Ala) single nucleotide variant Inborn genetic diseases [RCV003277823] Chr9:5812972 [GRCh38]
Chr9:5812972 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_024896.3(ERMP1):c.1894A>G (p.Met632Val) single nucleotide variant Inborn genetic diseases [RCV003193575] Chr9:5805047 [GRCh38]
Chr9:5805047 [GRCh37]
Chr9:9p24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2871
Count of miRNA genes:1013
Interacting mature miRNAs:1218
Transcripts:ENST00000214893, ENST00000339450, ENST00000381506, ENST00000462592, ENST00000475005, ENST00000487088, ENST00000489219, ENST00000543230
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.

Markers in Region
WI-15054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,784,595 - 5,784,697UniSTSGRCh37
Build 3695,774,595 - 5,774,697RGDNCBI36
Celera95,722,083 - 5,722,185RGD
Cytogenetic Map9p24UniSTS
HuRef95,740,464 - 5,740,566UniSTS
GeneMap99-GB4 RH Map924.25UniSTS
Whitehead-RH Map930.1UniSTS
SHGC-54206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,784,991 - 5,785,220UniSTSGRCh37
Build 3695,774,991 - 5,775,220RGDNCBI36
Celera95,722,479 - 5,722,708RGD
Cytogenetic Map9p24UniSTS
HuRef95,740,860 - 5,741,089UniSTS
TNG Radiation Hybrid Map92687.0UniSTS
RH67989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,830,904 - 5,831,031UniSTSGRCh37
Build 3695,820,904 - 5,821,031RGDNCBI36
Celera95,768,392 - 5,768,519RGD
Cytogenetic Map9p24UniSTS
HuRef95,786,778 - 5,786,905UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map967.0UniSTS


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 648 144 1158 248 741 111 1837 97 1700 347 1162 1409 153 1 201 976 5 2
Low 1791 2772 568 376 1141 354 2517 2094 2034 71 298 204 22 1003 1812 1
Below cutoff 75 69 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001410952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW295384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN390893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000214893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,825,285 (-)Ensembl
RefSeq Acc Id: ENST00000339450   ⟹   ENSP00000340427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,572 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000462592   ⟹   ENSP00000417160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,765,076 - 5,833,070 (-)Ensembl
RefSeq Acc Id: ENST00000475005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,812,737 - 5,833,073 (-)Ensembl
RefSeq Acc Id: ENST00000487088   ⟹   ENSP00000432986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,152 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000489219   ⟹   ENSP00000417474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,786,643 - 5,833,055 (-)Ensembl
RefSeq Acc Id: ENST00000684950   ⟹   ENSP00000508646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000685462   ⟹   ENSP00000509701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,571 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000686418   ⟹   ENSP00000508417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000688202   ⟹   ENSP00000510190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,749,832 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000688283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,585 - 5,788,721 (-)Ensembl
RefSeq Acc Id: ENST00000688887   ⟹   ENSP00000510241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,211 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000688899   ⟹   ENSP00000508594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000689030   ⟹   ENSP00000508877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,153 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000689259   ⟹   ENSP00000508662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000689268   ⟹   ENSP00000509900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,015 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000689364   ⟹   ENSP00000509092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,749,979 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000689671   ⟹   ENSP00000509042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000689742   ⟹   ENSP00000508825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000690037   ⟹   ENSP00000509902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000690284   ⟹   ENSP00000509328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,015 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000690648   ⟹   ENSP00000510403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000690753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,832,981 - 5,879,537 (-)Ensembl
RefSeq Acc Id: ENST00000691058   ⟹   ENSP00000510129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,823,896 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000691251   ⟹   ENSP00000508900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,583 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000691560   ⟹   ENSP00000510453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000692524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,821,918 - 5,833,117 (-)Ensembl
RefSeq Acc Id: ENST00000692974   ⟹   ENSP00000509019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,561 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000693487   ⟹   ENSP00000509985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,764,277 - 5,833,027 (-)Ensembl
RefSeq Acc Id: ENST00000693638   ⟹   ENSP00000509499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,784,987 - 5,833,027 (-)Ensembl
RefSeq Acc Id: NM_001410952   ⟹   NP_001397881
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,784,572 - 5,833,117 (-)NCBI
T2T-CHM13v2.095,789,712 - 5,838,258 (-)NCBI
RefSeq Acc Id: NM_024896   ⟹   NP_079172
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,784,572 - 5,833,117 (-)NCBI
GRCh3795,784,572 - 5,833,081 (-)RGD
Build 3695,774,572 - 5,823,081 (-)NCBI Archive
Celera95,722,060 - 5,770,569 (-)RGD
HuRef95,740,441 - 5,788,955 (-)ENTREZGENE
CHM1_195,785,246 - 5,833,752 (-)NCBI
T2T-CHM13v2.095,789,712 - 5,838,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017015139   ⟹   XP_016870628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,784,572 - 5,867,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423897   ⟹   XP_047279853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,787,430 - 5,833,117 (-)NCBI
RefSeq Acc Id: XM_047423898   ⟹   XP_047279854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,784,572 - 5,833,117 (-)NCBI
RefSeq Acc Id: XM_047423899   ⟹   XP_047279855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,801,207 - 5,833,117 (-)NCBI
RefSeq Acc Id: XM_054363862   ⟹   XP_054219837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,838,718 (-)NCBI
RefSeq Acc Id: XM_054363863   ⟹   XP_054219838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,865,374 (-)NCBI
RefSeq Acc Id: XM_054363864   ⟹   XP_054219839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,872,233 (-)NCBI
RefSeq Acc Id: XM_054363865   ⟹   XP_054219840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,792,570 - 5,864,719 (-)NCBI
RefSeq Acc Id: XM_054363866   ⟹   XP_054219841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,838,238 (-)NCBI
RefSeq Acc Id: XM_054363867   ⟹   XP_054219842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,864,719 (-)NCBI
RefSeq Acc Id: XM_054363868   ⟹   XP_054219843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,789,712 - 5,837,672 (-)NCBI
RefSeq Acc Id: XM_054363869   ⟹   XP_054219844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,806,347 - 5,864,719 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001397881 (Get FASTA)   NCBI Sequence Viewer  
  NP_079172 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279853 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279854 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279855 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219837 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219838 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219839 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219840 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219844 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH31630 (Get FASTA)   NCBI Sequence Viewer  
  AAI36772 (Get FASTA)   NCBI Sequence Viewer  
  AAI36774 (Get FASTA)   NCBI Sequence Viewer  
  BAB15604 (Get FASTA)   NCBI Sequence Viewer  
  BAB47444 (Get FASTA)   NCBI Sequence Viewer  
  BAD18796 (Get FASTA)   NCBI Sequence Viewer  
  BAG52673 (Get FASTA)   NCBI Sequence Viewer  
  BAG54455 (Get FASTA)   NCBI Sequence Viewer  
  EAW58757 (Get FASTA)   NCBI Sequence Viewer  
  EAW58758 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000340427
  ENSP00000340427.5
  ENSP00000417160.1
  ENSP00000417474
  ENSP00000417474.1
  ENSP00000432986
  ENSP00000432986.2
  ENSP00000508417.1
  ENSP00000508594
  ENSP00000508594.1
  ENSP00000508646.1
  ENSP00000508662.1
  ENSP00000508825.1
  ENSP00000508877.1
  ENSP00000508900
  ENSP00000508900.1
  ENSP00000509019.1
  ENSP00000509042.1
  ENSP00000509092.1
  ENSP00000509328.1
  ENSP00000509499.1
  ENSP00000509701.1
  ENSP00000509900.1
  ENSP00000509902.1
  ENSP00000509985.1
  ENSP00000510129.1
  ENSP00000510190.1
  ENSP00000510241.1
  ENSP00000510403.1
  ENSP00000510453.1
GenBank Protein Q7Z2K6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_079172   ⟸   NM_024896
- Peptide Label: isoform 1
- UniProtKB: Q8N5T5 (UniProtKB/Swiss-Prot),   B2RNA4 (UniProtKB/Swiss-Prot),   B3KSB1 (UniProtKB/Swiss-Prot),   Q9H5M1 (UniProtKB/Swiss-Prot),   Q7Z2K6 (UniProtKB/Swiss-Prot),   A0A8I5KYJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870628   ⟸   XM_017015139
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KYJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000340427   ⟸   ENST00000339450
RefSeq Acc Id: ENSP00000432986   ⟸   ENST00000487088
RefSeq Acc Id: ENSP00000417474   ⟸   ENST00000489219
RefSeq Acc Id: ENSP00000417160   ⟸   ENST00000462592
RefSeq Acc Id: ENSP00000508825   ⟸   ENST00000689742
RefSeq Acc Id: ENSP00000508646   ⟸   ENST00000684950
RefSeq Acc Id: ENSP00000509900   ⟸   ENST00000689268
RefSeq Acc Id: ENSP00000510403   ⟸   ENST00000690648
RefSeq Acc Id: ENSP00000508900   ⟸   ENST00000691251
RefSeq Acc Id: ENSP00000508877   ⟸   ENST00000689030
RefSeq Acc Id: ENSP00000508662   ⟸   ENST00000689259
RefSeq Acc Id: ENSP00000510129   ⟸   ENST00000691058
RefSeq Acc Id: ENSP00000510190   ⟸   ENST00000688202
RefSeq Acc Id: ENSP00000509499   ⟸   ENST00000693638
RefSeq Acc Id: ENSP00000509902   ⟸   ENST00000690037
RefSeq Acc Id: ENSP00000510453   ⟸   ENST00000691560
RefSeq Acc Id: ENSP00000508594   ⟸   ENST00000688899
RefSeq Acc Id: ENSP00000509019   ⟸   ENST00000692974
RefSeq Acc Id: ENSP00000509328   ⟸   ENST00000690284
RefSeq Acc Id: ENSP00000509092   ⟸   ENST00000689364
RefSeq Acc Id: ENSP00000509985   ⟸   ENST00000693487
RefSeq Acc Id: ENSP00000508417   ⟸   ENST00000686418
RefSeq Acc Id: ENSP00000510241   ⟸   ENST00000688887
RefSeq Acc Id: ENSP00000509701   ⟸   ENST00000685462
RefSeq Acc Id: ENSP00000509042   ⟸   ENST00000689671
RefSeq Acc Id: XP_047279854   ⟸   XM_047423898
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279853   ⟸   XM_047423897
- Peptide Label: isoform X2
- UniProtKB: E7ER77 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279855   ⟸   XM_047423899
- Peptide Label: isoform X4
- UniProtKB: A0A8I5KNY4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397881   ⟸   NM_001410952
- Peptide Label: isoform 2
- UniProtKB: A0A8I5KXJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219839   ⟸   XM_054363864
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219838   ⟸   XM_054363863
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219842   ⟸   XM_054363867
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219837   ⟸   XM_054363862
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219841   ⟸   XM_054363866
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219843   ⟸   XM_054363868
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054219840   ⟸   XM_054363865
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219844   ⟸   XM_054363869
- Peptide Label: isoform X4
Protein Domains
Peptidase M28

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z2K6-F1-model_v2 AlphaFold Q7Z2K6 1-904 view protein structure

Promoters
RGD ID:6807658
Promoter ID:HG_KWN:62556
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381506,   NM_024896,   OTTHUMT00000051640,   OTTHUMT00000051641,   UC003ZJN.1,   UC010MHS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,822,721 - 5,823,221 (-)MPROMDB
RGD ID:7214635
Promoter ID:EPDNEW_H13064
Type:initiation region
Name:ERMP1_2
Description:endoplasmic reticulum metallopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13065  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,832,771 - 5,832,831EPDNEW
RGD ID:7214639
Promoter ID:EPDNEW_H13065
Type:initiation region
Name:ERMP1_1
Description:endoplasmic reticulum metallopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13064  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,833,044 - 5,833,104EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23703 AgrOrtholog
COSMIC ERMP1 COSMIC
Ensembl Genes ENSG00000099219 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000214893 ENTREZGENE
  ENST00000339450 ENTREZGENE
  ENST00000339450.10 UniProtKB/Swiss-Prot
  ENST00000462592.5 UniProtKB/Swiss-Prot
  ENST00000487088 UniProtKB/TrEMBL
  ENST00000487088.6 UniProtKB/Swiss-Prot
  ENST00000489219 ENTREZGENE
  ENST00000489219.5 UniProtKB/TrEMBL
  ENST00000684950.1 UniProtKB/TrEMBL
  ENST00000685462.1 UniProtKB/TrEMBL
  ENST00000686418.1 UniProtKB/TrEMBL
  ENST00000688202.1 UniProtKB/Swiss-Prot
  ENST00000688887.1 UniProtKB/TrEMBL
  ENST00000688899 ENTREZGENE
  ENST00000688899.1 UniProtKB/TrEMBL
  ENST00000689030.1 UniProtKB/TrEMBL
  ENST00000689259.1 UniProtKB/TrEMBL
  ENST00000689268.1 UniProtKB/Swiss-Prot
  ENST00000689364.1 UniProtKB/Swiss-Prot
  ENST00000689671.1 UniProtKB/TrEMBL
  ENST00000689742.1 UniProtKB/TrEMBL
  ENST00000690037.1 UniProtKB/TrEMBL
  ENST00000690284.1 UniProtKB/Swiss-Prot
  ENST00000690648.1 UniProtKB/TrEMBL
  ENST00000691058.1 UniProtKB/TrEMBL
  ENST00000691251 ENTREZGENE
  ENST00000691251.1 UniProtKB/TrEMBL
  ENST00000691560.1 UniProtKB/TrEMBL
  ENST00000692974.1 UniProtKB/TrEMBL
  ENST00000693487.1 UniProtKB/TrEMBL
  ENST00000693638.1 UniProtKB/TrEMBL
Gene3D-CATH Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099219 GTEx
HGNC ID HGNC:23703 ENTREZGENE
Human Proteome Map ERMP1 Human Proteome Map
InterPro Fxna-like_M28_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M28_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79956 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79956 ENTREZGENE
OMIM 611156 OMIM
PANTHER ENDOPLASMIC RETICULUM METALLOPEPTIDASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12147 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385366 PharmGKB
Superfamily-SCOP Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGF0_HUMAN UniProtKB/TrEMBL
  A0A8I5KNY4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KR85_HUMAN UniProtKB/TrEMBL
  A0A8I5KUT1_HUMAN UniProtKB/TrEMBL
  A0A8I5KWW9_HUMAN UniProtKB/TrEMBL
  A0A8I5KXJ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KYJ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QJH1_HUMAN UniProtKB/TrEMBL
  A0A8I5QJM6_HUMAN UniProtKB/TrEMBL
  A0A8I5QJQ5_HUMAN UniProtKB/TrEMBL
  A0A8I5QJT4_HUMAN UniProtKB/TrEMBL
  A0A8I5QKK8_HUMAN UniProtKB/TrEMBL
  A0A8I5QL16_HUMAN UniProtKB/TrEMBL
  B2RNA4 ENTREZGENE
  B3KSB1 ENTREZGENE
  E7ER77 ENTREZGENE, UniProtKB/TrEMBL
  ERMP1_HUMAN UniProtKB/Swiss-Prot
  Q6ZMD3_HUMAN UniProtKB/TrEMBL
  Q7Z2K6 ENTREZGENE
  Q8N5T5 ENTREZGENE
  Q9H5M1 ENTREZGENE
UniProt Secondary B2RNA4 UniProtKB/Swiss-Prot
  B3KSB1 UniProtKB/Swiss-Prot
  Q8N5T5 UniProtKB/Swiss-Prot
  Q9H5M1 UniProtKB/Swiss-Prot