OCM (oncomodulin) - Rat Genome Database

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Gene: OCM (oncomodulin) Homo sapiens
Analyze
Symbol: OCM
Name: oncomodulin
RGD ID: 737307
HGNC Page HGNC:8105
Description: Predicted to enable calcium ion binding activity and protein homodimerization activity. Predicted to be involved in response to wounding. Predicted to be located in extracellular space; supramolecular fiber; and vesicle. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: beta parvalbumin; hCG18255; MGC142264; MGC142266; MGC97453; MGC97465; MGC97477; OCM1; OM; ONCM; oncomodulin 1; oncomodulin-1; parvalbumin beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: There are two oncomodulin-like loci on chromosome 7 (GeneIDs 4951 and 654231). The nomenclature for the p and q arm locations was modified to agree with reports (including PMID: 1559707) that place the OCM gene on the p arm. [18 Jun 2007]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,859,718 - 5,886,363 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,879,827 - 5,886,363 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,899,349 - 5,925,994 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,886,955 - 5,892,520 (+)NCBINCBI36Build 36hg18NCBI36
Build 34797,258,662 - 97,264,067NCBI
Celera75,879,996 - 5,885,563 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,831,808 - 5,837,381 (+)NCBIHuRef
CHM1_175,919,985 - 5,925,547 (+)NCBICHM1_1
T2T-CHM13v2.075,977,469 - 6,004,117 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,966,774 - 5,972,339 (+)NCBI
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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Cytosolic Ca2+ buffers. Schwaller B, Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a004051. doi: 10.1101/cshperspect.a004051. Epub 2010 Oct 13.
Additional References at PubMed
PMID:1559707   PMID:2306116   PMID:3179268   PMID:8354278   PMID:8611623   PMID:11181995   PMID:12477932   PMID:12853948   PMID:16344560   PMID:21084621   PMID:21734401   PMID:21873635  
PMID:26843644   PMID:28031328   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
OCM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,859,718 - 5,886,363 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,879,827 - 5,886,363 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,899,349 - 5,925,994 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,886,955 - 5,892,520 (+)NCBINCBI36Build 36hg18NCBI36
Build 34797,258,662 - 97,264,067NCBI
Celera75,879,996 - 5,885,563 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,831,808 - 5,837,381 (+)NCBIHuRef
CHM1_175,919,985 - 5,925,547 (+)NCBICHM1_1
T2T-CHM13v2.075,977,469 - 6,004,117 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,966,774 - 5,972,339 (+)NCBI
Ocm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395143,956,615 - 143,987,691 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5143,956,622 - 143,963,488 (-)EnsemblGRCm39 Ensembl
GRCm385144,019,807 - 144,050,640 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5144,019,804 - 144,026,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv375144,780,676 - 144,811,478 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365144,273,334 - 144,304,136 (-)NCBIMGSCv36mm8
Celera5141,002,113 - 141,033,119 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map582.85NCBI
Ocm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81215,649,452 - 15,710,375 (+)NCBIGRCr8
mRatBN7.21210,535,619 - 10,596,705 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1210,586,897 - 10,596,707 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1211,393,448 - 11,403,130 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01212,016,733 - 12,026,415 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01211,040,043 - 11,050,658 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01212,611,121 - 12,634,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1212,624,723 - 12,634,472 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01214,619,319 - 14,678,847 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41210,916,095 - 10,925,595 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11210,946,022 - 10,955,523 (+)NCBI
Celera1212,384,375 - 12,394,039 (+)NCBICelera
Cytogenetic Map12p11NCBI
Ocm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546013,876,279 - 13,880,643 (-)NCBIChiLan1.0ChiLan1.0
OCM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2610,775,792 - 10,826,576 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1759,100,497 - 59,151,284 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v076,066,257 - 6,126,400 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.176,089,803 - 6,114,752 (+)NCBIpanpan1.1PanPan1.1panPan2
OCM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.135,239,438 - 5,245,329 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.235,300,189 - 5,306,245 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Ocm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474031,461,266 - 31,465,473 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474031,461,152 - 31,581,141 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OCM
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1 copy number loss See cases [RCV000052268] Chr7:5331115..6031221 [GRCh38]
Chr7:5370746..6070852 [GRCh37]
Chr7:5337272..6037378 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3 copy number gain See cases [RCV000140685] Chr7:5635439..5883795 [GRCh38]
Chr7:5675070..5923426 [GRCh37]
Chr7:5641596..5889952 [NCBI36]
Chr7:7p22.1		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1 copy number loss See cases [RCV000135830] Chr7:5448387..6276950 [GRCh38]
Chr7:5488018..6316581 [GRCh37]
Chr7:5454544..6283106 [NCBI36]
Chr7:7p22.1		 likely pathogenic|benign
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3 copy number gain See cases [RCV000138729] Chr7:5331115..6340621 [GRCh38]
Chr7:5370746..6380252 [GRCh37]
Chr7:5337272..6346777 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3 copy number gain See cases [RCV000139037] Chr7:5331115..6751518 [GRCh38]
Chr7:5370746..6791149 [GRCh37]
Chr7:5337272..6757674 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5662552-5940027)x1 copy number loss See cases [RCV000447538] Chr7:5662552..5940027 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5816851-5950019)x1 copy number loss See cases [RCV000449157] Chr7:5816851..5950019 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5862847-5944692)x1 copy number loss See cases [RCV000446244] Chr7:5862847..5944692 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5717255-5925847)x3 copy number gain See cases [RCV000447402] Chr7:5717255..5925847 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5606650-6185838)x3 copy number gain not provided [RCV000848793] Chr7:5606650..6185838 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5702085-5949898)x1 copy number gain global hypotonia [RCV001004030] Chr7:5702085..5949898 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5868442-5950019)x1 copy number loss not provided [RCV001259431] Chr7:5868442..5950019 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5838734-5940027)x1 copy number loss not provided [RCV001259432] Chr7:5838734..5940027 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5676440-5965440)x3 copy number gain not provided [RCV001259433] Chr7:5676440..5965440 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001097622.2(OCM):c.323A>T (p.His108Leu) single nucleotide variant not specified [RCV004140011] Chr7:5886082 [GRCh38]
Chr7:5925713 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.152T>C (p.Ile51Thr) single nucleotide variant not specified [RCV004225211] Chr7:5882583 [GRCh38]
Chr7:5922214 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
NC_000007.13:g.(?_5900029)_(6018317_?)del deletion Hereditary nonpolyposis colorectal neoplasms [RCV004583423] Chr7:5900029..6018317 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_001097622.2(OCM):c.63C>G (p.Asp21Glu) single nucleotide variant not specified [RCV004646094] Chr7:5882494 [GRCh38]
Chr7:5922125 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.121G>C (p.Ala41Pro) single nucleotide variant not specified [RCV004646095] Chr7:5882552 [GRCh38]
Chr7:5922183 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.266C>T (p.Ala89Val) single nucleotide variant not specified [RCV004496765] Chr7:5883961 [GRCh38]
Chr7:5923592 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5864792-5925847)x3 copy number gain See cases [RCV000447994] Chr7:5864792..5925847 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5799660-5944692)x3 copy number gain See cases [RCV000448313] Chr7:5799660..5944692 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5799660-5925847)x3 copy number gain See cases [RCV000448781] Chr7:5799660..5925847 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5706398-6052556)x3 copy number gain not provided [RCV000682832] Chr7:5706398..6052556 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5626053-5934779)x3 copy number gain not provided [RCV000682820] Chr7:5626053..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3 copy number gain not provided [RCV000682836] Chr7:5606650..5974130 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.1(chr7:5671133-5934779)x3 copy number gain not provided [RCV000682813] Chr7:5671133..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5721448-6037168)x3 copy number gain not provided [RCV000746404] Chr7:5721448..6037168 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-5929666)x3 copy number gain not provided [RCV000746405] Chr7:5736390..5929666 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-6043319)x3 copy number gain not provided [RCV000746406] Chr7:5736390..6043319 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5736390-6063674)x3 copy number gain not provided [RCV000746407] Chr7:5736390..6063674 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5825588-6037043)x3 copy number gain not provided [RCV000746410] Chr7:5825588..6037043 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5854003-5927956)x1 copy number loss not provided [RCV000746411] Chr7:5854003..5927956 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5856019-6053286)x3 copy number gain not provided [RCV000746412] Chr7:5856019..6053286 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.1(chr7:5888663-5929666)x3 copy number gain not provided [RCV000746417] Chr7:5888663..5929666 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5749018-6065236)x3 copy number gain not provided [RCV000848039] Chr7:5749018..6065236 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5759704-6055929)x3 copy number gain not provided [RCV000848274] Chr7:5759704..6055929 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5868560-6480658)x3 copy number gain not provided [RCV000846261] Chr7:5868560..6480658 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5832633-6065236)x1 copy number loss not provided [RCV002473670] Chr7:5832633..6065236 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5749102-6055706)x3 copy number gain not provided [RCV001005899] Chr7:5749102..6055706 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3 copy number gain not provided [RCV001259436] Chr7:5919587..6762394 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_5834270)_(6018235_?)del deletion Hereditary nonpolyposis colorectal neoplasms [RCV003111395] Chr7:5834270..6018235 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
Single allele duplication 7p22.1 microduplication syndrome [RCV002266588] Chr7:5715376..6025454 [GRCh38]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
Single allele deletion Lynch syndrome 1 [RCV002308493] Chr7:5876369..6122058 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3 copy number gain not provided [RCV002475733] Chr7:5907660..6483282 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_001097622.2(OCM):c.221G>C (p.Gly74Ala) single nucleotide variant not specified [RCV004229881] Chr7:5883916 [GRCh38]
Chr7:5923547 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.145C>T (p.Arg49Trp) single nucleotide variant not specified [RCV004167280] Chr7:5882576 [GRCh38]
Chr7:5922207 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3 copy number gain not specified [RCV003986716] Chr7:5376510..5934779 [GRCh37]
Chr7:7p22.1		 likely pathogenic
NM_001097622.2(OCM):c.168C>A (p.Ser56Arg) single nucleotide variant not specified [RCV004496763] Chr7:5882599 [GRCh38]
Chr7:5922230 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.59G>A (p.Arg20Gln) single nucleotide variant not specified [RCV004496767] Chr7:5880948 [GRCh38]
Chr7:5920579 [GRCh37]
Chr7:7p22.1		 likely benign
NM_001097622.2(OCM):c.294T>G (p.Ile98Met) single nucleotide variant not specified [RCV004496766] Chr7:5883989 [GRCh38]
Chr7:5923620 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.16G>A (p.Val6Met) single nucleotide variant not specified [RCV004496764] Chr7:5880905 [GRCh38]
Chr7:5920536 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_001097622.2(OCM):c.164A>G (p.Gln55Arg) single nucleotide variant not specified [RCV004496762] Chr7:5882595 [GRCh38]
Chr7:5922226 [GRCh37]
Chr7:7p22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:372
Count of miRNA genes:245
Interacting mature miRNAs:252
Transcripts:ENST00000242104, ENST00000416608
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human
407306397GWAS955373_Hinterstitial lung disease QTL GWAS955373 (human)0.0000002interstitial lung disease758688055868806Human

Markers in Region
RH78909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,925,846 - 5,925,989UniSTSGRCh37
GRCh37797,614,001 - 97,614,144UniSTSGRCh37
Build 3675,892,372 - 5,892,515RGDNCBI36
Celera792,307,942 - 92,308,085UniSTS
Celera75,885,415 - 5,885,558RGD
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map7p22.1UniSTS
HuRef792,214,807 - 92,214,950UniSTS
HuRef75,837,233 - 5,837,376UniSTS
CRA_TCAGchr7v275,972,191 - 5,972,334UniSTS
CRA_TCAGchr7v2796,938,867 - 96,939,010UniSTS
RH40682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,925,858 - 5,925,989UniSTSGRCh37
GRCh37797,614,001 - 97,614,132UniSTSGRCh37
Build 3675,892,384 - 5,892,515RGDNCBI36
Celera792,307,942 - 92,308,073UniSTS
Celera75,885,427 - 5,885,558RGD
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map7p22.1UniSTS
HuRef792,214,807 - 92,214,938UniSTS
HuRef75,837,245 - 5,837,376UniSTS
CRA_TCAGchr7v275,972,203 - 5,972,334UniSTS
CRA_TCAGchr7v2796,938,867 - 96,938,998UniSTS
GDB:217597  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map7p22.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1061 2079 2099 1446 4655 1540 2000 1 495 1469 351 1991 5200 4884 31 3653 692 1579 1403 151

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001097622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC147028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC147029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB045979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB339645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L20345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000242104   ⟹   ENSP00000242104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,880,798 - 5,886,363 (+)Ensembl
Ensembl Acc Id: ENST00000416608   ⟹   ENSP00000401365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,879,827 - 5,886,242 (+)Ensembl
RefSeq Acc Id: NM_001097622   ⟹   NP_001091091
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,880,798 - 5,886,363 (+)NCBI
GRCh3775,920,429 - 5,925,994 (+)RGD
Build 3675,886,955 - 5,892,520 (+)NCBI Archive
Celera75,879,996 - 5,885,563 (+)RGD
HuRef75,831,808 - 5,837,381 (+)RGD
CHM1_175,919,985 - 5,925,547 (+)NCBI
T2T-CHM13v2.075,998,549 - 6,004,117 (+)NCBI
CRA_TCAGchr7v275,966,774 - 5,972,339 (+)RGD
Sequence:
RefSeq Acc Id: NM_001391990   ⟹   NP_001378919
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,859,718 - 5,886,363 (+)NCBI
T2T-CHM13v2.075,977,469 - 6,004,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391991   ⟹   NP_001378920
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,859,718 - 5,886,363 (+)NCBI
T2T-CHM13v2.075,977,469 - 6,004,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420752   ⟹   XP_047276708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,881,356 - 5,886,363 (+)NCBI
RefSeq Acc Id: XM_054358849   ⟹   XP_054214824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,999,107 - 6,004,117 (+)NCBI
RefSeq Acc Id: NP_001091091   ⟸   NM_001097622
- Peptide Label: isoform a
- UniProtKB: B9EJH7 (UniProtKB/Swiss-Prot),   P0CE72 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000242104   ⟸   ENST00000242104
Ensembl Acc Id: ENSP00000401365   ⟸   ENST00000416608
RefSeq Acc Id: NP_001378919   ⟸   NM_001391990
- Peptide Label: isoform a
- UniProtKB: P0CE72 (UniProtKB/Swiss-Prot),   B9EJH7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001378920   ⟸   NM_001391991
- Peptide Label: isoform b
RefSeq Acc Id: XP_047276708   ⟸   XM_047420752
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214824   ⟸   XM_054358849
- Peptide Label: isoform X1
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0CE72-F1-model_v2 AlphaFold P0CE72 1-109 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8105 AgrOrtholog
COSMIC OCM COSMIC
Ensembl Genes ENSG00000122543 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000242104 ENTREZGENE
  ENST00000242104.6 UniProtKB/Swiss-Prot
  ENST00000416608.5 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000122543 GTEx
HGNC ID HGNC:8105 ENTREZGENE
Human Proteome Map OCM Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  Parvalbumin UniProtKB/Swiss-Prot
KEGG Report hsa:654231 UniProtKB/Swiss-Prot
NCBI Gene 654231 ENTREZGENE
OMIM 164795 OMIM
PANTHER ONCOMODULIN-2-RELATED UniProtKB/Swiss-Prot
  PTHR11653 UniProtKB/Swiss-Prot
Pfam EF-hand_7 UniProtKB/Swiss-Prot
PharmGKB PA31894 PharmGKB
PRINTS PARVALBUMIN UniProtKB/Swiss-Prot
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt B9EJH7 ENTREZGENE
  ONCO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EJH7 UniProtKB/Swiss-Prot
  P32930 UniProtKB/Swiss-Prot
  Q6ISI5 UniProtKB/Swiss-Prot
  Q75MW0 UniProtKB/Swiss-Prot