C1R (complement C1r) - Rat Genome Database

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Gene: C1R (complement C1r) Homo sapiens
Analyze
Symbol: C1R
Name: complement C1r
RGD ID: 1319235
HGNC Page HGNC:1246
Description: Enables several functions, including calcium ion binding activity; identical protein binding activity; and serine-type endopeptidase activity. Involved in zymogen activation. Located in extracellular space. Implicated in Ehlers-Danlos syndrome periodontal type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: complement C1r subcomponent; complement component 1 subcomponent r; complement component 1, r subcomponent; EDS8; EDSPD1
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
GRCh38127,080,219 - 7,092,445 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl127,080,214 - 7,092,540 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,187,523 - 7,245,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,132,347 - 7,136,184 (-)NCBINCBI36Build 36hg18NCBI36
Build 36127,057,768 - 7,058,863 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,132,345 - 7,136,184NCBI
Celera128,810,415 - 8,821,122 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,051,362 - 7,057,949 (-)NCBIHuRef
HuRef127,047,821 - 7,049,720 (-)NCBIHuRef
CHM1_1127,186,493 - 7,188,392 (-)NCBICHM1_1
CHM1_1127,240,180 - 7,244,018 (-)NCBICHM1_1
T2T-CHM13v2.0127,093,689 - 7,105,531 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
bucladesine  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
disulfiram  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (EXP)
indinavir  (ISO)
indometacin  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lamivudine  (ISO)
lead(0)  (EXP)
medroxyprogesterone acetate  (EXP)
methidathion  (ISO)
methimazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
saquinavir  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
sotorasib  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zidovudine  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Alterations of the Classic Pathway of Complement in Adipose Tissue of Obesity and Insulin Resistance. Zhang J, etal., Am J Physiol Endocrinol Metab. 2007 Jan 23;.
Additional References at PubMed
PMID:737019   PMID:814163   PMID:1249422   PMID:1370572   PMID:1533159   PMID:2372546   PMID:2387866   PMID:2541966   PMID:2820791   PMID:2834284   PMID:3021205   PMID:3030286  
PMID:3036070   PMID:6282262   PMID:6303394   PMID:8125298   PMID:8162045   PMID:8227070   PMID:8635594   PMID:8881771   PMID:9174342   PMID:9477945   PMID:10092586   PMID:10878362  
PMID:11086101   PMID:11445589   PMID:11823416   PMID:12429092   PMID:12477932   PMID:12499050   PMID:12555245   PMID:12788922   PMID:12914573   PMID:14702039   PMID:14718574   PMID:15489334  
PMID:16335952   PMID:16344560   PMID:17996945   PMID:20008834   PMID:20178990   PMID:20592021   PMID:20796027   PMID:20970424   PMID:21873635   PMID:21988832   PMID:22516433   PMID:23533145  
PMID:23589288   PMID:23650384   PMID:26231209   PMID:26709396   PMID:27745832   PMID:28104818   PMID:28514442   PMID:28544690   PMID:28742139   PMID:29449217   PMID:30535813   PMID:31749804  
PMID:33961781   PMID:34155115   PMID:34315543   PMID:34324282   PMID:34756877   PMID:35365885   PMID:35726234   PMID:35944360   PMID:38407963  


Genomics

Comparative Map Data
C1R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38127,080,219 - 7,092,445 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl127,080,214 - 7,092,540 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,187,523 - 7,245,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,132,347 - 7,136,184 (-)NCBINCBI36Build 36hg18NCBI36
Build 36127,057,768 - 7,058,863 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,132,345 - 7,136,184NCBI
Celera128,810,415 - 8,821,122 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,051,362 - 7,057,949 (-)NCBIHuRef
HuRef127,047,821 - 7,049,720 (-)NCBIHuRef
CHM1_1127,186,493 - 7,188,392 (-)NCBICHM1_1
CHM1_1127,240,180 - 7,244,018 (-)NCBICHM1_1
T2T-CHM13v2.0127,093,689 - 7,105,531 (-)NCBIT2T-CHM13v2.0
C1rb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396124,547,389 - 124,558,003 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6124,547,253 - 124,558,130 (+)EnsemblGRCm39 Ensembl
GRCm386124,570,430 - 124,581,044 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6124,570,294 - 124,581,171 (+)EnsemblGRCm38mm10GRCm38
MGSCv376124,520,448 - 124,531,062 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366124,535,681 - 124,546,793 (+)NCBIMGSCv36mm8
Celera6126,253,012 - 126,262,880 (+)NCBICelera
Cytogenetic Map6F2NCBI
cM Map659.17NCBI
C1r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,099,013 - 159,109,770 (+)NCBIGRCr8
mRatBN7.24157,412,718 - 157,423,483 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4157,412,692 - 157,423,484 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4163,635,374 - 163,646,172 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04159,418,283 - 159,429,081 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,064,480 - 158,075,420 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,126,060 - 157,136,825 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,125,998 - 157,136,829 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,144,564 - 224,155,329 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44160,712,582 - 160,729,362 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14160,957,464 - 160,974,090 (+)NCBI
Celera4146,152,622 - 146,163,370 (+)NCBICelera
Cytogenetic Map4q42NCBI
C1r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,652,308 - 4,660,304 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,652,156 - 4,660,897 (-)NCBIChiLan1.0ChiLan1.0
C1R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21012,646,068 - 12,658,919 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11212,642,630 - 12,654,475 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,211,162 - 7,222,673 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1127,126,723 - 7,137,895 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,126,723 - 7,137,895 (-)Ensemblpanpan1.1panPan2
C1R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12737,951,137 - 37,960,687 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2737,950,246 - 37,960,557 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,656,115 - 8,665,621 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02738,303,593 - 38,313,135 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,303,136 - 38,333,701 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12738,178,473 - 38,188,007 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02738,219,555 - 38,229,110 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0278,134,262 - 8,143,646 (-)NCBIUU_Cfam_GSD_1.0
C1r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,041,423 - 102,052,228 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936709708,968 - 720,478 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936709709,001 - 719,758 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,643,374 - 63,655,143 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,644,097 - 63,655,149 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
C1R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,115,964 - 7,134,612 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl117,125,367 - 7,134,758 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660631,078,052 - 1,089,520 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C1r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,676,252 - 3,684,406 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,675,926 - 3,684,598 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1R
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.4(C1R):c.553G>A (p.Asp185Asn) single nucleotide variant Malignant melanoma [RCV000070193] Chr12:7089605 [GRCh38]
Chr12:7242201 [GRCh37]
Chr12:7133342 [NCBI36]
Chr12:12p13.31		 not provided
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3 copy number gain See cases [RCV000141432] Chr12:7055795..7428473 [GRCh38]
Chr12:7163099..7581069 [GRCh37]
Chr12:7033360..7472336 [NCBI36]
Chr12:12p13.31		 uncertain significance
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000258064]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755110] Chr12:7088886 [GRCh38]
Chr12:7241482 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000258068]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755118] Chr12:7086423 [GRCh38]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000258069]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755113] Chr12:7088853 [GRCh38]
Chr12:7241449 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) indel Ehlers-Danlos syndrome, periodontal type 1 [RCV000258071]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755115] Chr12:7088721..7088731 [GRCh38]
Chr12:7241317..7241327 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000258072]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755116] Chr12:7088721 [GRCh38]
Chr12:7241317 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.4:c.149_150TC>AT variation Ehlers-Danlos syndrome, type 8 [RCV000258073] Chr12:12p13.31 pathogenic
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000258067]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755112] Chr12:7088856 [GRCh38]
Chr12:7241452 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.6:c.1200_1215delCCGTATCCAGTACTACinsTCATGTAATA indel Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755121]   likely pathogenic
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV002499372]|not provided [RCV000733341] Chr12:7090203 [GRCh38]
Chr12:7242799 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000412507]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755111] Chr12:7088865 [GRCh38]
Chr12:7241461 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) indel Ehlers-Danlos syndrome, periodontal type 1 [RCV000412647]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755109] Chr12:7091533..7091534 [GRCh38]
Chr12:7244129..7244130 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
NM_001733.7(C1R):c.336G>C (p.Met112Ile) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000767907]|Vascular dementia [RCV001263175]|not provided [RCV000994842] Chr12:7090144 [GRCh38]
Chr12:7242740 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) indel Ehlers-Danlos syndrome, periodontal type 1 [RCV000417044]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755121] Chr12:7085919..7085934 [GRCh38]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000417060]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755114] Chr12:7088850 [GRCh38]
Chr12:7241446 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000417063]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755120] Chr12:7086383 [GRCh38]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000417050]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755119] Chr12:7086404 [GRCh38]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000417066]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755117] Chr12:7088636 [GRCh38]
Chr12:7241232 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV000417057]|Ehlers-Danlos syndrome, periodontal type 2 [RCV000755122] Chr12:7082077 [GRCh38]
Chr12:7189381 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_001733.7(C1R):c.635G>A (p.Arg212Gln) single nucleotide variant not specified [RCV003317812] Chr12:7089426 [GRCh38]
Chr12:7242022 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1977A>G (p.Ala659=) single nucleotide variant not specified [RCV000603508] Chr12:7080673 [GRCh38]
Chr12:7187977 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.926G>A (p.Cys309Tyr) single nucleotide variant not provided [RCV000658635] Chr12:7088722 [GRCh38]
Chr12:7241318 [GRCh37]
Chr12:12p13.31		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_001733.7(C1R):c.2+27T>A single nucleotide variant not provided [RCV001539539] Chr12:7092360 [GRCh38]
Chr12:7244956 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.232-109T>C single nucleotide variant not provided [RCV001689440] Chr12:7090357 [GRCh38]
Chr12:7242953 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.647C>G (p.Pro216Arg) single nucleotide variant C1R-related condition [RCV003921353]|not provided [RCV001703373] Chr12:7089414 [GRCh38]
Chr12:7242010 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001733.7(C1R):c.949G>A (p.Glu317Lys) single nucleotide variant not provided [RCV000994839] Chr12:7088699 [GRCh38]
Chr12:7241295 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.425-14T>C single nucleotide variant not provided [RCV000788121] Chr12:7089747 [GRCh38]
Chr12:7242343 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.31(chr12:7162134-7605102)x3 copy number gain not provided [RCV000849455] Chr12:7162134..7605102 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.875C>T (p.Ser292Leu) single nucleotide variant not provided [RCV000994840] Chr12:7088880 [GRCh38]
Chr12:7241476 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs) duplication Ehlers-Danlos syndrome, periodontal type 1 [RCV001250191] Chr12:7081221..7081222 [GRCh38]
Chr12:7188525..7188526 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_001733.7(C1R):c.646C>A (p.Pro216Thr) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV001197684] Chr12:7089415 [GRCh38]
Chr12:7242011 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_001733.7(C1R):c.*51del deletion not provided [RCV001654197] Chr12:7080481 [GRCh38]
Chr12:7187785 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.1349-176del deletion not provided [RCV001714080] Chr12:7081477 [GRCh38]
Chr12:7188781 [GRCh37]
Chr12:12p13.31		 benign
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.27G>A (p.Pro9=) single nucleotide variant C1R-related condition [RCV003921189]|not provided [RCV001531142] Chr12:7091656 [GRCh38]
Chr12:7244252 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.451A>G (p.Lys151Glu) single nucleotide variant not provided [RCV000994841] Chr12:7089707 [GRCh38]
Chr12:7242303 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.2073C>T (p.Leu691=) single nucleotide variant not specified [RCV002470030] Chr12:7080577 [GRCh38]
Chr12:7187881 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.232-19C>A single nucleotide variant not provided [RCV001720499] Chr12:7090267 [GRCh38]
Chr12:7242863 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.232-196G>A single nucleotide variant not provided [RCV001541039] Chr12:7090444 [GRCh38]
Chr12:7243040 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.781G>A (p.Gly261Arg) single nucleotide variant not provided [RCV001688374] Chr12:7088974 [GRCh38]
Chr12:7241570 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.1033A>C (p.Ile345Leu) single nucleotide variant not provided [RCV001678483] Chr12:7088615 [GRCh38]
Chr12:7241211 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.2+21A>C single nucleotide variant not provided [RCV001671090] Chr12:7092366 [GRCh38]
Chr12:7244962 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.550G>A (p.Glu184Lys) single nucleotide variant not provided [RCV001645719] Chr12:7089608 [GRCh38]
Chr12:7242204 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.1038+78T>C single nucleotide variant not provided [RCV001541722] Chr12:7088532 [GRCh38]
Chr12:7241128 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001733.7(C1R):c.232-106T>C single nucleotide variant not provided [RCV001679114] Chr12:7090354 [GRCh38]
Chr12:7242950 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.1038+151T>C single nucleotide variant not provided [RCV001707039] Chr12:7088459 [GRCh38]
Chr12:7241055 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.265T>C (p.Cys89Arg) single nucleotide variant Ehlers-Danlos syndrome [RCV001248812] Chr12:7090215 [GRCh38]
Chr12:7242811 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV001311286] Chr12:7091657 [GRCh38]
Chr12:7244253 [GRCh37]
Chr12:12p13.31		 likely benign
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
NM_001733.7(C1R):c.953T>G (p.Phe318Cys) single nucleotide variant not provided [RCV001310991] Chr12:7088695 [GRCh38]
Chr12:7241291 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.445C>T (p.Arg149Trp) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV001280962] Chr12:7089713 [GRCh38]
Chr12:7242309 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.969C>T (p.Asn323=) single nucleotide variant not provided [RCV001310990] Chr12:7088679 [GRCh38]
Chr12:7241275 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.646C>G (p.Pro216Ala) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV001376145] Chr12:7089415 [GRCh38]
Chr12:7242011 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1392C>A (p.Ile464=) single nucleotide variant not provided [RCV001617797] Chr12:7081258 [GRCh38]
Chr12:7188562 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001733.7(C1R):c.1631C>T (p.Pro544Leu) single nucleotide variant not provided [RCV001774157] Chr12:7081019 [GRCh38]
Chr12:7188323 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.704A>G (p.Lys235Arg) single nucleotide variant not provided [RCV001816113] Chr12:7089357 [GRCh38]
Chr12:7241953 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.674G>A (p.Arg225Gln) single nucleotide variant Vascular dementia [RCV002051770] Chr12:7089387 [GRCh38]
Chr12:7241983 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:6872634-7244086) copy number gain not specified [RCV002052969] Chr12:6872634..7244086 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(7362819_?)dup duplication not provided [RCV001943326] Chr12:6945914..7362819 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1926C>G (p.His642Gln) single nucleotide variant not provided [RCV002211208] Chr12:7080724 [GRCh38]
Chr12:7188028 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1337G>A (p.Arg446Gln) single nucleotide variant not provided [RCV002211209] Chr12:7082043 [GRCh38]
Chr12:7189347 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.3-106G>T single nucleotide variant not provided [RCV002211210] Chr12:7091786 [GRCh38]
Chr12:7244382 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.876G>A (p.Ser292=) single nucleotide variant not provided [RCV002276370] Chr12:7088879 [GRCh38]
Chr12:7241475 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.2091C>G (p.Ile697Met) single nucleotide variant not provided [RCV002275976] Chr12:7080559 [GRCh38]
Chr12:7187863 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NM_001733.7(C1R):c.366C>T (p.Asn122=) single nucleotide variant C1R-related condition [RCV003943332]|not provided [RCV002262378] Chr12:7090114 [GRCh38]
Chr12:7242710 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.1038+120A>G single nucleotide variant not provided [RCV002262377] Chr12:7088490 [GRCh38]
Chr12:7241086 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.853C>A (p.Leu285Met) single nucleotide variant Stroke disorder [RCV002287808] Chr12:7088902 [GRCh38]
Chr12:7241498 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.3-101T>C single nucleotide variant not provided [RCV002262379] Chr12:7091781 [GRCh38]
Chr12:7244377 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.1202G>A (p.Arg401His) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV002471864] Chr12:7085932 [GRCh38]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001733.7(C1R):c.542A>G (p.Glu181Gly) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV002471812] Chr12:7089616 [GRCh38]
Chr12:7242212 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.2000G>A (p.Arg667His) single nucleotide variant not specified [RCV003155606] Chr12:7080650 [GRCh38]
Chr12:7187954 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003154094] Chr12:7086423 [GRCh38]
Chr12:12p13.31		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.231+6G>A single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003224747] Chr12:7091446 [GRCh38]
Chr12:7244042 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.424+2T>C single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003223386] Chr12:7090054 [GRCh38]
Chr12:7242650 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.203C>T (p.Ser68Phe) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003143866] Chr12:7091480 [GRCh38]
Chr12:7244076 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.419C>T (p.Ala140Val) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003143867] Chr12:7090061 [GRCh38]
Chr12:7242657 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.450C>A (p.Ser150Arg) single nucleotide variant Ehlers-Danlos syndrome, periodontal type 1 [RCV003143868] Chr12:7089708 [GRCh38]
Chr12:7242304 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.769-18del deletion not specified [RCV003322477] Chr12:7089004 [GRCh38]
Chr12:7241600 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.88A>T (p.Thr30Ser) single nucleotide variant not provided [RCV003396183] Chr12:7091595 [GRCh38]
Chr12:7244191 [GRCh37]
Chr12:12p13.31		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.395A>T (p.Lys132Met) single nucleotide variant not specified [RCV003479663] Chr12:7090085 [GRCh38]
Chr12:7242681 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.653T>C (p.Leu218Pro) single nucleotide variant not provided [RCV003443458] Chr12:7089408 [GRCh38]
Chr12:7242004 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.2100G>A (p.Glu700=) single nucleotide variant not provided [RCV003396182] Chr12:7080550 [GRCh38]
Chr12:7187854 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.334A>G (p.Met112Val) single nucleotide variant C1R-related condition [RCV003417082] Chr12:7090146 [GRCh38]
Chr12:7242742 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_001733.7(C1R):c.880G>A (p.Asp294Asn) single nucleotide variant C1R-related condition [RCV003402679] Chr12:7088875 [GRCh38]
Chr12:7241471 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001733.7(C1R):c.2013G>A (p.Thr671=) single nucleotide variant C1R-related condition [RCV003904214] Chr12:7080637 [GRCh38]
Chr12:7187941 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.916+10C>T single nucleotide variant C1R-related condition [RCV003964540] Chr12:7088829 [GRCh38]
Chr12:7241425 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.3-10G>A single nucleotide variant C1R-related condition [RCV003944578] Chr12:7091690 [GRCh38]
Chr12:7244286 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.487C>T (p.His163Tyr) single nucleotide variant C1R-related condition [RCV003923881] Chr12:7089671 [GRCh38]
Chr12:7242267 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.24G>T (p.Val8=) single nucleotide variant C1R-related condition [RCV003962270] Chr12:7091659 [GRCh38]
Chr12:7244255 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.3-93G>A single nucleotide variant C1R-related condition [RCV003933835] Chr12:7091773 [GRCh38]
Chr12:7244369 [GRCh37]
Chr12:12p13.31		 benign
NM_001733.7(C1R):c.232-9T>C single nucleotide variant C1R-related condition [RCV003896484] Chr12:7090257 [GRCh38]
Chr12:7242853 [GRCh37]
Chr12:12p13.31		 likely benign
NM_001733.7(C1R):c.876G>C (p.Ser292=) single nucleotide variant C1R-related condition [RCV003904734] Chr12:7088879 [GRCh38]
Chr12:7241475 [GRCh37]
Chr12:12p13.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3991
Count of miRNA genes:863
Interacting mature miRNAs:1044
Transcripts:ENST00000535233, ENST00000536053, ENST00000536092, ENST00000538050, ENST00000540242, ENST00000540394, ENST00000540610, ENST00000541042, ENST00000542220, ENST00000542285, ENST00000543362, ENST00000543835, ENST00000543851, ENST00000545466, ENST00000602286, ENST00000602480
Prediction methods:Microtar, Miranda, Rnahybrid
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
RH17663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,187,568 - 7,187,727UniSTSGRCh37
Build 36127,057,823 - 7,057,982RGDNCBI36
Cytogenetic Map12p13UniSTS
HuRef127,047,876 - 7,048,035UniSTS
GeneMap99-GB4 RH Map1245.71UniSTS
RH75712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,187,813 - 7,188,046UniSTSGRCh37
Build 36127,058,068 - 7,058,301RGDNCBI36
Celera128,810,650 - 8,810,883RGD
Cytogenetic Map12p13UniSTS
HuRef127,048,121 - 7,048,354UniSTS
GDB:251487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,242,221 - 7,242,330UniSTSGRCh37
Build 36127,133,362 - 7,133,471RGDNCBI36
Celera128,818,300 - 8,818,409RGD
Cytogenetic Map12p13UniSTS
HuRef127,055,127 - 7,055,236UniSTS
C1R_1615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,187,554 - 7,188,409UniSTSGRCh37
Build 36127,057,809 - 7,058,664RGDNCBI36
HuRef127,047,862 - 7,048,717UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS
G32495  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13UniSTS
A009F01  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13UniSTS
GeneMap99-GB4 RH Map1245.21UniSTS
NCBI RH Map12117.9UniSTS


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 317 545 218 177 14 177 667 202 281 8 271 137 374 490
Medium 2002 1724 1464 428 585 269 3457 1947 1972 343 1122 1308 171 1 830 2292 1
Low 95 716 43 18 1267 18 231 44 1472 65 61 155 4 6 3 2
Below cutoff 25 6 1 1 77 1 2 4 9 3 6 13 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_062465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01012193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01017671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC094008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC154092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01126602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01126603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA949107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LJII02000152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000535233   ⟹   ENSP00000438636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,421 - 7,092,472 (-)Ensembl
RefSeq Acc Id: ENST00000536053   ⟹   ENSP00000444271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,421 - 7,091,892 (-)Ensembl
RefSeq Acc Id: ENST00000536092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,091,156 - 7,092,493 (-)Ensembl
RefSeq Acc Id: ENST00000538050   ⟹   ENSP00000444009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,696 - 7,091,891 (-)Ensembl
RefSeq Acc Id: ENST00000540242   ⟹   ENSP00000442946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,655 - 7,092,493 (-)Ensembl
RefSeq Acc Id: ENST00000540394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,214 - 7,092,441 (-)Ensembl
RefSeq Acc Id: ENST00000540610   ⟹   ENSP00000439223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,465 - 7,092,540 (-)Ensembl
RefSeq Acc Id: ENST00000541042   ⟹   ENSP00000441601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,628 - 7,092,493 (-)Ensembl
RefSeq Acc Id: ENST00000543362   ⟹   ENSP00000446356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,358 - 7,092,430 (-)Ensembl
RefSeq Acc Id: ENST00000543835   ⟹   ENSP00000445285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,615 - 7,092,441 (-)Ensembl
RefSeq Acc Id: ENST00000543851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,648 - 7,090,358 (-)Ensembl
RefSeq Acc Id: ENST00000545466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,089,936 - 7,092,441 (-)Ensembl
RefSeq Acc Id: ENST00000602298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,419 - 7,087,844 (-)Ensembl
RefSeq Acc Id: ENST00000647956   ⟹   ENSP00000497341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,219 - 7,092,445 (-)Ensembl
RefSeq Acc Id: ENST00000648162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,741 - 7,090,792 (-)Ensembl
RefSeq Acc Id: ENST00000649804   ⟹   ENSP00000497938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl127,080,481 - 7,088,848 (-)Ensembl
RefSeq Acc Id: NM_001354346   ⟹   NP_001341275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,080,219 - 7,091,893 (-)NCBI
T2T-CHM13v2.0127,093,689 - 7,104,979 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001733   ⟹   NP_001724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,080,219 - 7,092,445 (-)NCBI
GRCh37127,241,205 - 7,245,043 (-)ENTREZGENE
GRCh37127,187,513 - 7,189,412 (-)NCBI
Build 36127,132,347 - 7,136,184 (-)NCBI Archive
HuRef127,051,362 - 7,057,949 (-)ENTREZGENE
HuRef127,047,821 - 7,049,720 (-)NCBI
CHM1_1127,186,493 - 7,244,018 (-)NCBI
T2T-CHM13v2.0127,093,689 - 7,105,531 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001724   ⟸   NM_001733
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8J012 (UniProtKB/Swiss-Prot),   Q68D77 (UniProtKB/Swiss-Prot),   P00736 (UniProtKB/Swiss-Prot),   A6NJQ8 (UniProtKB/Swiss-Prot),   A0A3B3ISR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341275   ⟸   NM_001354346
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q8J012 (UniProtKB/Swiss-Prot),   Q68D77 (UniProtKB/Swiss-Prot),   P00736 (UniProtKB/Swiss-Prot),   A6NJQ8 (UniProtKB/Swiss-Prot),   F5GZR1 (UniProtKB/TrEMBL),   B4DPQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000441601   ⟸   ENST00000541042
RefSeq Acc Id: ENSP00000497938   ⟸   ENST00000649804
RefSeq Acc Id: ENSP00000445285   ⟸   ENST00000543835
RefSeq Acc Id: ENSP00000446356   ⟸   ENST00000543362
RefSeq Acc Id: ENSP00000438636   ⟸   ENST00000535233
RefSeq Acc Id: ENSP00000444271   ⟸   ENST00000536053
RefSeq Acc Id: ENSP00000444009   ⟸   ENST00000538050
RefSeq Acc Id: ENSP00000442946   ⟸   ENST00000540242
RefSeq Acc Id: ENSP00000439223   ⟸   ENST00000540610
RefSeq Acc Id: ENSP00000497341   ⟸   ENST00000647956
Protein Domains
CUB   EGF-like   Peptidase S1   Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00736-F1-model_v2 AlphaFold P00736 1-705 view protein structure

Promoters
RGD ID:7223007
Promoter ID:EPDNEW_H17248
Type:initiation region
Name:C1R_3
Description:complement C1r
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17249  EPDNEW_H17250  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,090,798 - 7,090,858EPDNEW
RGD ID:7223005
Promoter ID:EPDNEW_H17249
Type:initiation region
Name:C1R_2
Description:complement C1r
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17248  EPDNEW_H17250  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,091,891 - 7,091,951EPDNEW
RGD ID:7223009
Promoter ID:EPDNEW_H17250
Type:initiation region
Name:C1R_1
Description:complement C1r
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17249  EPDNEW_H17248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,092,445 - 7,092,505EPDNEW
RGD ID:6789755
Promoter ID:HG_KWN:14883
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000290575,   NM_001733,   UC001QSM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36127,136,131 - 7,136,727 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1246 AgrOrtholog
COSMIC C1R COSMIC
Ensembl Genes ENSG00000159403 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000535233.6 UniProtKB/TrEMBL
  ENST00000536053 ENTREZGENE
  ENST00000536053.6 UniProtKB/TrEMBL
  ENST00000538050.5 UniProtKB/TrEMBL
  ENST00000540242.2 UniProtKB/TrEMBL
  ENST00000540610.5 UniProtKB/TrEMBL
  ENST00000541042.5 UniProtKB/TrEMBL
  ENST00000543362.5 UniProtKB/TrEMBL
  ENST00000543835.5 UniProtKB/TrEMBL
  ENST00000647956 ENTREZGENE
  ENST00000647956.2 UniProtKB/TrEMBL
  ENST00000649804.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159403 GTEx
HGNC ID HGNC:1246 ENTREZGENE
Human Proteome Map C1R Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S1A_C1r/C1S/mannan-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:715 UniProtKB/Swiss-Prot
NCBI Gene 715 ENTREZGENE
OMIM 613785 OMIM
PANTHER COMPLEMENT COMPONENT 1, S SUBCOMPONENT-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24255:SF25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25635 PharmGKB
PIRSF C1r_C1s_MASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISR2 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ITU4_HUMAN UniProtKB/TrEMBL
  A6NJQ8 ENTREZGENE
  B4DPQ0 ENTREZGENE, UniProtKB/TrEMBL
  C1R_HUMAN UniProtKB/Swiss-Prot
  F5GWL0_HUMAN UniProtKB/TrEMBL
  F5GZR1 ENTREZGENE
  F5H1N6_HUMAN UniProtKB/TrEMBL
  F5H1V0_HUMAN UniProtKB/TrEMBL
  F5H2D0_HUMAN UniProtKB/TrEMBL
  F5H3A3_HUMAN UniProtKB/TrEMBL
  F5H3N3_HUMAN UniProtKB/TrEMBL
  F5H6Y3_HUMAN UniProtKB/TrEMBL
  P00736 ENTREZGENE
  Q68D77 ENTREZGENE
  Q8J012 ENTREZGENE
UniProt Secondary A6NJQ8 UniProtKB/Swiss-Prot
  F5GZR1 UniProtKB/TrEMBL
  Q68D77 UniProtKB/Swiss-Prot
  Q8J012 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 C1R  complement C1r    complement C1r subcomponent  Symbol and/or name change 5135510 APPROVED
2016-03-14 C1R  complement C1r subcomponent    complement component 1, r subcomponent  Symbol and/or name change 5135510 APPROVED