COBL (cordon-bleu WH2 repeat protein) - Rat Genome Database

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Gene: COBL (cordon-bleu WH2 repeat protein) Homo sapiens
Analyze
Symbol: COBL
Name: cordon-bleu WH2 repeat protein
RGD ID: 1323755
HGNC Page HGNC:22199
Description: Predicted to enable actin monomer binding activity. Predicted to be involved in several processes, including actin filament organization; chordate embryonic development; and collateral sprouting in absence of injury. Predicted to act upstream of or within actin cytoskeleton organization. Predicted to be located in several cellular components, including actin filament; axon; and dendrite. Predicted to be active in several cellular components, including growth cone; ruffle; and terminal web.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cordon-bleu homolog; DKFZp686G13227; KIAA0633; MGC131893; protein cordon-bleu
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: COBLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38751,016,212 - 51,316,809 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl751,016,212 - 51,316,818 (-)EnsemblGRCh38hg38GRCh38
GRCh37751,083,909 - 51,384,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36751,051,404 - 51,351,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34750,858,118 - 51,158,705NCBI
Celera751,148,737 - 51,449,348 (-)NCBICelera
Cytogenetic Map7p12.1NCBI
HuRef750,933,696 - 51,137,285 (-)NCBIHuRef
CHM1_1751,086,207 - 51,386,564 (-)NCBICHM1_1
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2751,089,893 - 51,390,521 (-)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
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
caffeine  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP,ISO)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (ISO)
fenfluramine  (EXP)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
inulin  (ISO)
lipopolysaccharide  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
p-toluidine  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
propiconazole  (ISO)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
spermine  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin filament  (IBA,IEA,ISS)
axon  (IEA,ISS)
axonal growth cone  (IBA,IEA,ISS)
cell cortex  (IEA,ISS)
cell projection  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
dendrite  (IEA,ISS)
dendritic growth cone  (IBA,IEA,ISS)
membrane  (IEA,ISS)
neuronal cell body  (IBA,IEA,ISS)
perinuclear region of cytoplasm  (IBA,IEA,ISS)
plasma membrane  (IBA,IEA,ISS)
ruffle  (IBA,IEA,ISS)
terminal web  (IBA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:7586755   PMID:9734811   PMID:12477932   PMID:14512015   PMID:15345747   PMID:15489334   PMID:16344560   PMID:19058789   PMID:19240061   PMID:19430480   PMID:20379614   PMID:20936779  
PMID:21653829   PMID:21816349   PMID:21873635   PMID:22939629   PMID:23726511   PMID:23740775   PMID:24332808   PMID:24415668   PMID:26186194   PMID:26334624   PMID:26496610   PMID:27419633  
PMID:27770636   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30639242   PMID:30833792   PMID:30884312   PMID:31413325  
PMID:31470122   PMID:31586073   PMID:31871319   PMID:32203420   PMID:32296183   PMID:32457219   PMID:33961781   PMID:34079125   PMID:34244482   PMID:34369648   PMID:35271311   PMID:35337019  
PMID:35748872   PMID:35850772   PMID:35906200   PMID:36774506   PMID:36779422   PMID:36834493   PMID:36931259   PMID:36976175   PMID:37609425  


Genomics

Comparative Map Data
COBL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38751,016,212 - 51,316,809 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl751,016,212 - 51,316,818 (-)EnsemblGRCh38hg38GRCh38
GRCh37751,083,909 - 51,384,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36751,051,404 - 51,351,990 (-)NCBINCBI36Build 36hg18NCBI36
Build 34750,858,118 - 51,158,705NCBI
Celera751,148,737 - 51,449,348 (-)NCBICelera
Cytogenetic Map7p12.1NCBI
HuRef750,933,696 - 51,137,285 (-)NCBIHuRef
CHM1_1751,086,207 - 51,386,564 (-)NCBICHM1_1
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2751,089,893 - 51,390,521 (-)NCBI
Cobl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391112,186,676 - 12,415,022 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1112,186,608 - 12,414,960 (-)EnsemblGRCm39 Ensembl
GRCm381112,236,676 - 12,465,022 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1112,236,608 - 12,464,960 (-)EnsemblGRCm38mm10GRCm38
MGSCv371112,136,679 - 12,364,963 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361112,136,681 - 12,364,803 (-)NCBIMGSCv36mm8
Celera1112,678,618 - 12,909,422 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map117.3NCBI
Cobl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81491,041,721 - 91,274,272 (-)NCBIGRCr8
mRatBN7.21486,828,137 - 87,060,682 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1486,828,139 - 87,060,800 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1491,237,296 - 91,483,692 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01492,481,631 - 92,728,031 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01488,949,260 - 89,195,657 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01492,341,949 - 92,497,169 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1492,342,957 - 92,577,936 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01492,142,186 - 92,321,314 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41493,154,637 - 93,309,406 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11492,994,412 - 93,340,571 (-)NCBI
Celera1485,826,388 - 85,975,943 (-)NCBICelera
Cytogenetic Map14q21NCBI
COBL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2655,888,527 - 56,188,488 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17104,213,250 - 104,513,211 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0751,652,318 - 51,952,256 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1751,894,468 - 52,114,849 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl751,895,807 - 52,097,841 (-)Ensemblpanpan1.1panPan2
COBL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1182,206,957 - 2,386,333 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl182,208,260 - 2,459,206 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha182,249,781 - 2,393,765 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0182,317,922 - 2,462,079 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl182,264,613 - 2,514,854 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1182,289,962 - 2,433,564 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0182,286,890 - 2,430,828 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0182,423,375 - 2,567,362 (-)NCBIUU_Cfam_GSD_1.0
Cobl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118105,650,726 - 105,902,001 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936686621,502 - 872,824 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COBL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.19136,850,521 - 137,055,249 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29150,659,325 - 150,667,343 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COBL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,501,647 - 7,803,175 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl217,598,126 - 7,803,177 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606214,578,093 - 14,882,079 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cobl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247403,332,977 - 3,399,915 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COBL
121 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_015198.5(COBL):c.1468C>T (p.Arg490Cys) single nucleotide variant not specified [RCV004442383] Chr7:51030848 [GRCh38]
Chr7:51098545 [GRCh37]
Chr7:51066039 [NCBI36]
Chr7:7p12.1		 uncertain significance|not provided
NM_015198.3(COBL):c.1235C>T (p.Ser412Phe) single nucleotide variant Malignant melanoma [RCV000061657] Chr7:51043554 [GRCh38]
Chr7:51111251 [GRCh37]
Chr7:51078745 [NCBI36]
Chr7:7p12.1		 not provided
NM_015198.3(COBL):c.246C>T (p.Ser82=) single nucleotide variant Malignant melanoma [RCV000061658] Chr7:51193589 [GRCh38]
Chr7:51261286 [GRCh37]
Chr7:51228780 [NCBI36]
Chr7:7p12.1		 not provided
NM_015198.5(COBL):c.215G>T (p.Gly72Val) single nucleotide variant not provided [RCV000122546] Chr7:51219771 [GRCh38]
Chr7:51287468 [GRCh37]
Chr7:7p12.1		 uncertain significance
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 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1		 pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p12.1(chr7:51241591-52097376)x3 copy number gain See cases [RCV000143408] Chr7:51241591..52097376 [GRCh38]
Chr7:51309288..52165072 [GRCh37]
Chr7:51276782..52132566 [NCBI36]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:50960381-51381031)x3 copy number gain See cases [RCV000449196] Chr7:50960381..51381031 [GRCh37]
Chr7:7p12.1		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
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 7p12.1(chr7:50981149-51358173)x3 copy number gain See cases [RCV000448893] Chr7:50981149..51358173 [GRCh37]
Chr7:7p12.1		 likely benign
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 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-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_015198.5(COBL):c.2230G>A (p.Ala744Thr) single nucleotide variant not specified [RCV004326516] Chr7:51028866 [GRCh38]
Chr7:51096563 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.3709G>A (p.Ala1237Thr) single nucleotide variant not specified [RCV004294189] Chr7:51025168 [GRCh38]
Chr7:51092865 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2535G>T (p.Arg845Ser) single nucleotide variant not specified [RCV004310311] Chr7:51028561 [GRCh38]
Chr7:51096258 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1958G>A (p.Gly653Asp) single nucleotide variant not specified [RCV004291070] Chr7:51029138 [GRCh38]
Chr7:51096835 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:51188386-51313596)x1 copy number loss not provided [RCV000682792] Chr7:51188386..51313596 [GRCh37]
Chr7:7p12.1		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
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
NM_015198.5(COBL):c.1801C>T (p.His601Tyr) single nucleotide variant not provided [RCV000948773] Chr7:51029295 [GRCh38]
Chr7:51096992 [GRCh37]
Chr7:7p12.1		 benign
NM_015198.5(COBL):c.3702C>T (p.Thr1234=) single nucleotide variant not provided [RCV000901129] Chr7:51025175 [GRCh38]
Chr7:51092872 [GRCh37]
Chr7:7p12.1		 benign
NM_015198.5(COBL):c.141G>A (p.Ser47=) single nucleotide variant not provided [RCV000968111] Chr7:51219845 [GRCh38]
Chr7:51287542 [GRCh37]
Chr7:7p12.1		 benign
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
NM_015198.5(COBL):c.171G>A (p.Ala57=) single nucleotide variant not provided [RCV000896338] Chr7:51219815 [GRCh38]
Chr7:51287512 [GRCh37]
Chr7:7p12.1		 benign
NM_015198.5(COBL):c.1706C>T (p.Ser569Leu) single nucleotide variant not specified [RCV004282011] Chr7:51029390 [GRCh38]
Chr7:51097087 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:51287201-51316816)x1 copy number loss not provided [RCV000845655] Chr7:51287201..51316816 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:51287201-51316816)x1 copy number loss not provided [RCV000845653] Chr7:51287201..51316816 [GRCh37]
Chr7:7p12.1		 uncertain significance
Single allele duplication Silver Russell Syndrome-related disorder [RCV000785663] Chr7:50981149..51956510 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:50873282-51113681)x3 copy number gain not provided [RCV000848675] Chr7:50873282..51113681 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:50978109-51377859)x3 copy number gain not provided [RCV000845883] Chr7:50978109..51377859 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2776A>G (p.Lys926Glu) single nucleotide variant not specified [RCV004291470] Chr7:51028320 [GRCh38]
Chr7:51096017 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.187A>G (p.Met63Val) single nucleotide variant not specified [RCV004292367] Chr7:51219799 [GRCh38]
Chr7:51287496 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.602A>G (p.Asn201Ser) single nucleotide variant not specified [RCV004294483] Chr7:51190933 [GRCh38]
Chr7:51258630 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.877G>A (p.Val293Met) single nucleotide variant not specified [RCV004304639] Chr7:51136238 [GRCh38]
Chr7:51203935 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.779G>A (p.Ser260Asn) single nucleotide variant not specified [RCV004306041] Chr7:51184106 [GRCh38]
Chr7:51251803 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2956C>T (p.Arg986Cys) single nucleotide variant not specified [RCV004283807] Chr7:51028140 [GRCh38]
Chr7:51095837 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.666C>T (p.Tyr222=) single nucleotide variant not provided [RCV000974234] Chr7:51190869 [GRCh38]
Chr7:51258566 [GRCh37]
Chr7:7p12.1		 benign
NM_015198.5(COBL):c.1538C>T (p.Ser513Phe) single nucleotide variant not provided [RCV000954675] Chr7:51029558 [GRCh38]
Chr7:51097255 [GRCh37]
Chr7:7p12.1		 benign
NM_015198.5(COBL):c.958-41_960del deletion not specified [RCV001175057] Chr7:51085302..51085345 [GRCh38]
Chr7:51152999..51153042 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1963G>C (p.Ala655Pro) single nucleotide variant not provided [RCV001684860] Chr7:51029133 [GRCh38]
Chr7:51096830 [GRCh37]
Chr7:7p12.1		 benign
GRCh37/hg19 7p12.1(chr7:50938947-51376558)x3 copy number gain not provided [RCV001258926] Chr7:50938947..51376558 [GRCh37]
Chr7:7p12.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p12.1(chr7:51142796-51440184)x3 copy number gain not provided [RCV001834154] Chr7:51142796..51440184 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.376A>G (p.Thr126Ala) single nucleotide variant not specified [RCV004311884] Chr7:51193459 [GRCh38]
Chr7:51261156 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:51217906-51328561)x1 copy number loss not provided [RCV001834235] Chr7:51217906..51328561 [GRCh37]
Chr7:7p12.1		 uncertain significance
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
NM_015198.5(COBL):c.3067C>G (p.Pro1023Ala) single nucleotide variant not specified [RCV004321462] Chr7:51028029 [GRCh38]
Chr7:51095726 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2888C>T (p.Thr963Ile) single nucleotide variant not specified [RCV004317550] Chr7:51028208 [GRCh38]
Chr7:51095905 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3205A>G (p.Lys1069Glu) single nucleotide variant not specified [RCV004288124] Chr7:51027891 [GRCh38]
Chr7:51095588 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3041G>A (p.Arg1014His) single nucleotide variant not specified [RCV004314760] Chr7:51028055 [GRCh38]
Chr7:51095752 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.11C>G (p.Pro4Arg) single nucleotide variant not specified [RCV004126756] Chr7:51316623 [GRCh38]
Chr7:51384320 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1230G>A (p.Met410Ile) single nucleotide variant not specified [RCV004125967] Chr7:51043559 [GRCh38]
Chr7:51111256 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1273A>G (p.Ser425Gly) single nucleotide variant not specified [RCV004139359] Chr7:51043516 [GRCh38]
Chr7:51111213 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3074A>C (p.His1025Pro) single nucleotide variant not specified [RCV004205000] Chr7:51028022 [GRCh38]
Chr7:51095719 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1568A>G (p.Asn523Ser) single nucleotide variant not specified [RCV004234783] Chr7:51029528 [GRCh38]
Chr7:51097225 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.3199G>C (p.Glu1067Gln) single nucleotide variant not specified [RCV004151574] Chr7:51027897 [GRCh38]
Chr7:51095594 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2261C>T (p.Ser754Leu) single nucleotide variant not specified [RCV004245694] Chr7:51028835 [GRCh38]
Chr7:51096532 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.372T>G (p.Ile124Met) single nucleotide variant not specified [RCV004092520] Chr7:51193463 [GRCh38]
Chr7:51261160 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.884C>T (p.Ser295Leu) single nucleotide variant not specified [RCV004166714] Chr7:51136231 [GRCh38]
Chr7:51203928 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3056C>T (p.Thr1019Ile) single nucleotide variant not specified [RCV004194480] Chr7:51028040 [GRCh38]
Chr7:51095737 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3628C>T (p.Pro1210Ser) single nucleotide variant not specified [RCV004083088] Chr7:51025249 [GRCh38]
Chr7:51092946 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3550G>A (p.Ala1184Thr) single nucleotide variant not specified [RCV004198718] Chr7:51025327 [GRCh38]
Chr7:51093024 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.889A>G (p.Met297Val) single nucleotide variant not specified [RCV004211673] Chr7:51136226 [GRCh38]
Chr7:51203923 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1126T>G (p.Cys376Gly) single nucleotide variant not specified [RCV004196283] Chr7:51043663 [GRCh38]
Chr7:51111360 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2330A>T (p.Glu777Val) single nucleotide variant not specified [RCV004166491] Chr7:51028766 [GRCh38]
Chr7:51096463 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1631T>C (p.Ile544Thr) single nucleotide variant not specified [RCV004245359] Chr7:51029465 [GRCh38]
Chr7:51097162 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.385G>A (p.Val129Met) single nucleotide variant not specified [RCV004112209] Chr7:51193450 [GRCh38]
Chr7:51261147 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2236G>A (p.Gly746Ser) single nucleotide variant not specified [RCV004202429] Chr7:51028860 [GRCh38]
Chr7:51096557 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2853G>C (p.Arg951Ser) single nucleotide variant not specified [RCV004230337] Chr7:51028243 [GRCh38]
Chr7:51095940 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.2517G>A (p.Met839Ile) single nucleotide variant not specified [RCV004198568] Chr7:51028579 [GRCh38]
Chr7:51096276 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2375C>T (p.Pro792Leu) single nucleotide variant not specified [RCV004245504] Chr7:51028721 [GRCh38]
Chr7:51096418 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1469G>A (p.Arg490His) single nucleotide variant not specified [RCV004195562] Chr7:51030847 [GRCh38]
Chr7:51098544 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.251C>T (p.Ala84Val) single nucleotide variant not specified [RCV004126802] Chr7:51193584 [GRCh38]
Chr7:51261281 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2378C>A (p.Ser793Tyr) single nucleotide variant not specified [RCV004108263] Chr7:51028718 [GRCh38]
Chr7:51096415 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2855G>T (p.Gly952Val) single nucleotide variant not specified [RCV004115236] Chr7:51028241 [GRCh38]
Chr7:51095938 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2161G>C (p.Asp721His) single nucleotide variant not specified [RCV004203288] Chr7:51028935 [GRCh38]
Chr7:51096632 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.394G>A (p.Val132Met) single nucleotide variant not specified [RCV004085804] Chr7:51193441 [GRCh38]
Chr7:51261138 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2957G>A (p.Arg986His) single nucleotide variant not specified [RCV004199504] Chr7:51028139 [GRCh38]
Chr7:51095836 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.1828G>A (p.Gly610Arg) single nucleotide variant not specified [RCV004088401] Chr7:51029268 [GRCh38]
Chr7:51096965 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3505G>T (p.Val1169Leu) single nucleotide variant not specified [RCV004236344] Chr7:51025372 [GRCh38]
Chr7:51093069 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2393C>G (p.Thr798Arg) single nucleotide variant not specified [RCV004081758] Chr7:51028703 [GRCh38]
Chr7:51096400 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2276C>G (p.Ala759Gly) single nucleotide variant not specified [RCV004263017] Chr7:51028820 [GRCh38]
Chr7:51096517 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3400G>A (p.Gly1134Arg) single nucleotide variant not specified [RCV004248002] Chr7:51026650 [GRCh38]
Chr7:51094347 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3622C>T (p.Pro1208Ser) single nucleotide variant not specified [RCV004274776] Chr7:51025255 [GRCh38]
Chr7:51092952 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1969G>A (p.Gly657Arg) single nucleotide variant not specified [RCV004330925] Chr7:51029127 [GRCh38]
Chr7:51096824 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.187A>T (p.Met63Leu) single nucleotide variant not specified [RCV004277262] Chr7:51219799 [GRCh38]
Chr7:51287496 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1817A>G (p.Asp606Gly) single nucleotide variant not specified [RCV004269207] Chr7:51029279 [GRCh38]
Chr7:51096976 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2132T>C (p.Ile711Thr) single nucleotide variant not specified [RCV004256382] Chr7:51028964 [GRCh38]
Chr7:51096661 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2978G>A (p.Cys993Tyr) single nucleotide variant not specified [RCV004271355] Chr7:51028118 [GRCh38]
Chr7:51095815 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3139G>A (p.Gly1047Ser) single nucleotide variant not specified [RCV004343402] Chr7:51027957 [GRCh38]
Chr7:51095654 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.1001G>A (p.Arg334Gln) single nucleotide variant not specified [RCV004342192] Chr7:51085261 [GRCh38]
Chr7:51152958 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1968C>G (p.Asp656Glu) single nucleotide variant not specified [RCV004351923] Chr7:51029128 [GRCh38]
Chr7:51096825 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.121C>G (p.His41Asp) single nucleotide variant not specified [RCV004343460] Chr7:51219865 [GRCh38]
Chr7:51287562 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.950C>T (p.Ser317Leu) single nucleotide variant not specified [RCV004336401] Chr7:51136165 [GRCh38]
Chr7:51203862 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.40G>C (p.Gly14Arg) single nucleotide variant not specified [RCV004349258] Chr7:51316594 [GRCh38]
Chr7:51384291 [GRCh37]
Chr7:7p12.1		 uncertain significance
GRCh37/hg19 7p12.1(chr7:50617859-52201563)x1 copy number loss not provided [RCV003482957] Chr7:50617859..52201563 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3729C>T (p.Asp1243=) single nucleotide variant not provided [RCV003433834] Chr7:51025148 [GRCh38]
Chr7:51092845 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.1974G>A (p.Glu658=) single nucleotide variant not provided [RCV003433836] Chr7:51029122 [GRCh38]
Chr7:51096819 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.2672A>G (p.Tyr891Cys) single nucleotide variant not provided [RCV003433835] Chr7:51028424 [GRCh38]
Chr7:51096121 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.2440A>G (p.Ile814Val) single nucleotide variant not provided [RCV003736534] Chr7:51028656 [GRCh38]
Chr7:51096353 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.20C>T (p.Ser7Leu) single nucleotide variant not specified [RCV004442389] Chr7:51316614 [GRCh38]
Chr7:51384311 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2203G>A (p.Glu735Lys) single nucleotide variant not specified [RCV004442391] Chr7:51028893 [GRCh38]
Chr7:51096590 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2684G>T (p.Gly895Val) single nucleotide variant not specified [RCV004442394] Chr7:51028412 [GRCh38]
Chr7:51096109 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2853G>T (p.Arg951Ser) single nucleotide variant not specified [RCV004442397] Chr7:51028243 [GRCh38]
Chr7:51095940 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.2957G>T (p.Arg986Leu) single nucleotide variant not specified [RCV004442398] Chr7:51028139 [GRCh38]
Chr7:51095836 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.508C>T (p.Arg170Cys) single nucleotide variant not specified [RCV004444391] Chr7:51191027 [GRCh38]
Chr7:51258724 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1756C>T (p.His586Tyr) single nucleotide variant not specified [RCV004442387] Chr7:51029340 [GRCh38]
Chr7:51097037 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2530G>A (p.Val844Met) single nucleotide variant not specified [RCV004442393] Chr7:51028566 [GRCh38]
Chr7:51096263 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3544G>A (p.Asp1182Asn) single nucleotide variant not specified [RCV004444388] Chr7:51025333 [GRCh38]
Chr7:51093030 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.811T>C (p.Ser271Pro) single nucleotide variant not specified [RCV004444392] Chr7:51136304 [GRCh38]
Chr7:51204001 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1549T>G (p.Ser517Ala) single nucleotide variant not specified [RCV004442385] Chr7:51029547 [GRCh38]
Chr7:51097244 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.212G>C (p.Ser71Thr) single nucleotide variant not specified [RCV004442390] Chr7:51219774 [GRCh38]
Chr7:51287471 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2699C>T (p.Ala900Val) single nucleotide variant not specified [RCV004442395] Chr7:51028397 [GRCh38]
Chr7:51096094 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.3118T>G (p.Ser1040Ala) single nucleotide variant not specified [RCV004442401] Chr7:51027978 [GRCh38]
Chr7:51095675 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3388G>T (p.Ala1130Ser) single nucleotide variant not specified [RCV004442403] Chr7:51026662 [GRCh38]
Chr7:51094359 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3598C>T (p.Leu1200Phe) single nucleotide variant not specified [RCV004444389] Chr7:51025279 [GRCh38]
Chr7:51092976 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.443C>T (p.Pro148Leu) single nucleotide variant not specified [RCV004444390] Chr7:51193392 [GRCh38]
Chr7:51261089 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3433G>A (p.Glu1145Lys) single nucleotide variant not specified [RCV004444387] Chr7:51026617 [GRCh38]
Chr7:51094314 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1027C>T (p.Pro343Ser) single nucleotide variant not specified [RCV004442381] Chr7:51085235 [GRCh38]
Chr7:51152932 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2804C>T (p.Thr935Ile) single nucleotide variant not specified [RCV004442396] Chr7:51028292 [GRCh38]
Chr7:51095989 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.146A>G (p.Gln49Arg) single nucleotide variant not specified [RCV004442384] Chr7:51219840 [GRCh38]
Chr7:51287537 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3095G>A (p.Cys1032Tyr) single nucleotide variant not specified [RCV004442399] Chr7:51028001 [GRCh38]
Chr7:51095698 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1600G>A (p.Gly534Ser) single nucleotide variant not provided [RCV004546010] Chr7:51029496 [GRCh38]
Chr7:51097193 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.121C>T (p.His41Tyr) single nucleotide variant not specified [RCV004442382] Chr7:51219865 [GRCh38]
Chr7:51287562 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1558G>C (p.Gly520Arg) single nucleotide variant not specified [RCV004442386] Chr7:51029538 [GRCh38]
Chr7:51097235 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1996G>A (p.Val666Met) single nucleotide variant not specified [RCV004442388] Chr7:51029100 [GRCh38]
Chr7:51096797 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3103G>A (p.Glu1035Lys) single nucleotide variant not specified [RCV004442400] Chr7:51027993 [GRCh38]
Chr7:51095690 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2359T>C (p.Ser787Pro) single nucleotide variant not specified [RCV004615688] Chr7:51028737 [GRCh38]
Chr7:51096434 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1739C>T (p.Ala580Val) single nucleotide variant not specified [RCV004615686] Chr7:51029357 [GRCh38]
Chr7:51097054 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.913C>A (p.Pro305Thr) single nucleotide variant not specified [RCV004615697] Chr7:51136202 [GRCh38]
Chr7:51203899 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.573C>A (p.Ser191Arg) single nucleotide variant not specified [RCV004615687] Chr7:51190962 [GRCh38]
Chr7:51258659 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1490A>G (p.Asp497Gly) single nucleotide variant not specified [RCV004615696] Chr7:51030826 [GRCh38]
Chr7:51098523 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3014A>C (p.Glu1005Ala) single nucleotide variant not specified [RCV004615699] Chr7:51028082 [GRCh38]
Chr7:51095779 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1057C>T (p.Arg353Cys) single nucleotide variant not specified [RCV004615689] Chr7:51085205 [GRCh38]
Chr7:51152902 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2072G>A (p.Arg691Gln) single nucleotide variant not specified [RCV004615692] Chr7:51029024 [GRCh38]
Chr7:51096721 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1065G>C (p.Glu355Asp) single nucleotide variant not specified [RCV004615695] Chr7:51085197 [GRCh38]
Chr7:51152894 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2597A>G (p.Gln866Arg) single nucleotide variant not specified [RCV004615694] Chr7:51028499 [GRCh38]
Chr7:51096196 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.823C>T (p.Arg275Cys) single nucleotide variant not specified [RCV004615698] Chr7:51136292 [GRCh38]
Chr7:51203989 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.323G>A (p.Arg108Gln) single nucleotide variant not specified [RCV004615693] Chr7:51193512 [GRCh38]
Chr7:51261209 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2321A>G (p.Asn774Ser) single nucleotide variant not specified [RCV004897328] Chr7:51028775 [GRCh38]
Chr7:51096472 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2417G>C (p.Arg806Thr) single nucleotide variant not specified [RCV004897325] Chr7:51028679 [GRCh38]
Chr7:51096376 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3703G>A (p.Ala1235Thr) single nucleotide variant not specified [RCV004897326] Chr7:51025174 [GRCh38]
Chr7:51092871 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2258C>G (p.Ser753Cys) single nucleotide variant not specified [RCV004897327] Chr7:51028838 [GRCh38]
Chr7:51096535 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3320C>G (p.Thr1107Arg) single nucleotide variant not specified [RCV004897330] Chr7:51027776 [GRCh38]
Chr7:51095473 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3373A>G (p.Arg1125Gly) single nucleotide variant not specified [RCV004897332] Chr7:51027723 [GRCh38]
Chr7:51095420 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1565C>G (p.Ser522Cys) single nucleotide variant not specified [RCV004897333] Chr7:51029531 [GRCh38]
Chr7:51097228 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1796C>T (p.Ala599Val) single nucleotide variant not specified [RCV004897334] Chr7:51029300 [GRCh38]
Chr7:51096997 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3523G>C (p.Glu1175Gln) single nucleotide variant not specified [RCV004897335] Chr7:51025354 [GRCh38]
Chr7:51093051 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.676A>G (p.Asn226Asp) single nucleotide variant not specified [RCV004897336] Chr7:51190859 [GRCh38]
Chr7:51258556 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2623C>T (p.Arg875Cys) single nucleotide variant not specified [RCV004897321] Chr7:51028473 [GRCh38]
Chr7:51096170 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.158G>C (p.Arg53Pro) single nucleotide variant not specified [RCV004897322] Chr7:51219828 [GRCh38]
Chr7:51287525 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1676A>G (p.Asn559Ser) single nucleotide variant not specified [RCV004897323] Chr7:51029420 [GRCh38]
Chr7:51097117 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3445G>A (p.Glu1149Lys) single nucleotide variant not specified [RCV004897324] Chr7:51026605 [GRCh38]
Chr7:51094302 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1364G>T (p.Ser455Ile) single nucleotide variant not specified [RCV004897337] Chr7:51043425 [GRCh38]
Chr7:51111122 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.1135G>A (p.Asp379Asn) single nucleotide variant not specified [RCV004897338] Chr7:51043654 [GRCh38]
Chr7:51111351 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2561T>A (p.Val854Asp) single nucleotide variant not specified [RCV004897339] Chr7:51028535 [GRCh38]
Chr7:51096232 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2014A>G (p.Asn672Asp) single nucleotide variant not specified [RCV004897340] Chr7:51029082 [GRCh38]
Chr7:51096779 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.3214G>A (p.Val1072Met) single nucleotide variant not specified [RCV004897329] Chr7:51027882 [GRCh38]
Chr7:51095579 [GRCh37]
Chr7:7p12.1		 likely benign
NM_015198.5(COBL):c.3742G>A (p.Gly1248Ser) single nucleotide variant not specified [RCV004897331] Chr7:51025135 [GRCh38]
Chr7:51092832 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.898C>T (p.Arg300Cys) single nucleotide variant not specified [RCV004340405] Chr7:51136217 [GRCh38]
Chr7:51203914 [GRCh37]
Chr7:7p12.1		 uncertain significance
NM_015198.5(COBL):c.2705T>C (p.Val902Ala) single nucleotide variant not specified [RCV004339739] Chr7:51028391 [GRCh38]
Chr7:51096088 [GRCh37]
Chr7:7p12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3804
Count of miRNA genes:1070
Interacting mature miRNAs:1299
Transcripts:ENST00000265136, ENST00000395540, ENST00000395542, ENST00000431948, ENST00000441453, ENST00000445054, ENST00000449281, ENST00000452534, ENST00000462395
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
597159831GWAS1255905_Hlipid measurement QTL GWAS1255905 (human)0.000005lipid measurementblood lipid measurement (CMO:0000050)75118502251185023Human
407163477GWAS812453_HFEV/FVC ratio, response to bronchodilator QTL GWAS812453 (human)5e-08FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)75102726651027267Human
597506149GWAS1602223_Hphotoreceptor cell layer thickness measurement QTL GWAS1602223 (human)6e-22photoreceptor cell layer thickness measurement75103249351032494Human
597616374GWAS1673234_Hvascular disease QTL GWAS1673234 (human)4e-11vascular disease75107636051076361Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597414247GWAS1510321_HAbnormality of refraction QTL GWAS1510321 (human)3e-11Abnormality of refraction75103249351032494Human
407058751GWAS707727_Hdiacylglycerol 34:1 measurement QTL GWAS707727 (human)0.000003milk diacylglycerol amount (VT:0010385)75113260151132602Human
597062043GWAS1158117_Hsquamous cell lung carcinoma QTL GWAS1158117 (human)0.000007squamous cell lung carcinoma75121651851216519Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
597020395GWAS1116469_Hforced expiratory volume, response to bronchodilator QTL GWAS1116469 (human)3e-09forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)75102726651027267Human
597601953GWAS1658813_Htype 2 diabetes mellitus QTL GWAS1658813 (human)2e-10type 2 diabetes mellitus75102010251020103Human

Markers in Region
D7S2422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,138,051 - 51,138,245UniSTSGRCh37
GRCh37751,138,176 - 51,138,320UniSTSGRCh37
Build 36751,105,545 - 51,105,739RGDNCBI36
Celera751,202,841 - 51,203,059RGD
Celera751,202,990 - 51,203,134UniSTS
Cytogenetic Map7p12.1UniSTS
HuRef750,987,957 - 50,988,101UniSTS
HuRef750,987,808 - 50,988,026UniSTS
CRA_TCAGchr7v2751,143,998 - 51,144,213UniSTS
CRA_TCAGchr7v2751,144,144 - 51,144,288UniSTS
Marshfield Genetic Map772.78UniSTS
Marshfield Genetic Map772.78RGD
Genethon Genetic Map773.8UniSTS
deCODE Assembly Map773.17UniSTS
Stanford-G3 RH Map72252.0UniSTS
GeneMap99-GB4 RH Map7233.38UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7705.8UniSTS
GeneMap99-G3 RH Map72252.0UniSTS
D7S1970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37185,030,994 - 5,031,140UniSTSGRCh37
GRCh37751,129,343 - 51,129,486UniSTSGRCh37
Build 36751,096,837 - 51,096,980RGDNCBI36
Celera751,194,146 - 51,194,289RGD
Celera184,915,434 - 4,915,580UniSTS
Cytogenetic Map7p12.1UniSTS
HuRef750,979,113 - 50,979,256UniSTS
HuRef184,996,791 - 4,996,937UniSTS
CRA_TCAGchr7v2751,135,301 - 51,135,444UniSTS
RH66457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,090,375 - 51,090,511UniSTSGRCh37
Build 36751,057,869 - 51,058,005RGDNCBI36
Celera751,155,198 - 51,155,334RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,940,163 - 50,940,299UniSTS
CRA_TCAGchr7v2751,096,354 - 51,096,490UniSTS
GeneMap99-GB4 RH Map7236.42UniSTS
NCBI RH Map7691.3UniSTS
SHGC-35886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,084,122 - 51,084,256UniSTSGRCh37
Build 36751,051,616 - 51,051,750RGDNCBI36
Celera751,148,950 - 51,149,084RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,933,909 - 50,934,043UniSTS
CRA_TCAGchr7v2751,090,106 - 51,090,240UniSTS
TNG Radiation Hybrid Map725669.0UniSTS
Stanford-G3 RH Map72261.0UniSTS
NCBI RH Map7703.9UniSTS
GeneMap99-G3 RH Map72261.0UniSTS
RH92383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,139,802 - 51,139,931UniSTSGRCh37
Build 36751,107,296 - 51,107,425RGDNCBI36
Celera751,204,615 - 51,204,744RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,989,582 - 50,989,711UniSTS
CRA_TCAGchr7v2751,145,769 - 51,145,898UniSTS
GeneMap99-GB4 RH Map7236.02UniSTS
SHGC-150799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,138,043 - 51,138,327UniSTSGRCh37
Build 36751,105,537 - 51,105,821RGDNCBI36
Celera751,202,833 - 51,203,141RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,987,800 - 50,988,108UniSTS
CRA_TCAGchr7v2751,143,990 - 51,144,295UniSTS
TNG Radiation Hybrid Map725632.0UniSTS
TNG Radiation Hybrid Map570544.0UniSTS
D7S1430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,114,257 - 51,114,350UniSTSGRCh37
Build 36751,081,751 - 51,081,844RGDNCBI36
Celera751,179,052 - 51,179,145RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,964,017 - 50,964,110UniSTS
CRA_TCAGchr7v2751,120,208 - 51,120,301UniSTS
D7S724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,344,671 - 51,344,764UniSTSGRCh37
Build 36751,312,165 - 51,312,258RGDNCBI36
Celera751,409,483 - 51,409,576RGD
Cytogenetic Map7p12.1UniSTS
HuRef751,194,346 - 51,194,439UniSTS
CRA_TCAGchr7v2751,350,664 - 51,350,757UniSTS
GDB:1317222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,246,858 - 51,246,956UniSTSGRCh37
Build 36751,214,352 - 51,214,450RGDNCBI36
Celera751,311,645 - 51,311,743RGD
Cytogenetic Map7p12.1UniSTS
HuRef751,096,490 - 51,096,588UniSTS
CRA_TCAGchr7v2751,252,821 - 51,252,919UniSTS
RH69755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,084,859 - 51,085,005UniSTSGRCh37
Build 36751,052,353 - 51,052,499RGDNCBI36
Celera751,149,687 - 51,149,833RGD
Cytogenetic Map7p12.1UniSTS
HuRef750,934,646 - 50,934,792UniSTS
CRA_TCAGchr7v2751,090,843 - 51,090,989UniSTS
GeneMap99-GB4 RH Map7232.88UniSTS
NCBI RH Map7704.7UniSTS
COBL_4605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37751,083,875 - 51,084,768UniSTSGRCh37
Build 36751,051,369 - 51,052,262RGDNCBI36
Celera751,148,703 - 51,149,596RGD
HuRef750,933,662 - 50,934,555UniSTS
CRA_TCAGchr7v2751,089,859 - 51,090,752UniSTS
COBL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,072,404 - 118,072,523UniSTSGRCh37
GRCh37751,261,085 - 51,261,204UniSTSGRCh37
CeleraX118,527,296 - 118,527,415UniSTS
Celera751,325,870 - 51,325,989UniSTS
HuRef751,110,715 - 51,110,834UniSTS
HuRefX107,565,622 - 107,565,741UniSTS
CRA_TCAGchr7v2751,267,048 - 51,267,167UniSTS
D7S2422  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p12.1UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2429 2788 2236 4904 1711 2318 5 620 1304 461 2244 6628 5819 28 3682 1 819 1717 1587 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA245843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265136   ⟹   ENSP00000265136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,016,212 - 51,316,809 (-)Ensembl
Ensembl Acc Id: ENST00000395540   ⟹   ENSP00000378910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,064,399 - 51,316,818 (-)Ensembl
Ensembl Acc Id: ENST00000395542   ⟹   ENSP00000378912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,016,213 - 51,316,818 (-)Ensembl
Ensembl Acc Id: ENST00000431948   ⟹   ENSP00000413498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,016,212 - 51,316,818 (-)Ensembl
Ensembl Acc Id: ENST00000441453   ⟹   ENSP00000399500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,070,828 - 51,316,764 (-)Ensembl
Ensembl Acc Id: ENST00000445054   ⟹   ENSP00000401204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,016,212 - 51,193,435 (-)Ensembl
Ensembl Acc Id: ENST00000449281   ⟹   ENSP00000391864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,190,998 - 51,316,471 (-)Ensembl
Ensembl Acc Id: ENST00000452534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,029,180 - 51,193,589 (-)Ensembl
Ensembl Acc Id: ENST00000462395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,017,280 - 51,035,955 (-)Ensembl
Ensembl Acc Id: ENST00000632460   ⟹   ENSP00000488001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,072,716 - 51,316,763 (-)Ensembl
Ensembl Acc Id: ENST00000648294   ⟹   ENSP00000497998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl751,083,058 - 51,316,767 (-)Ensembl
RefSeq Acc Id: NM_001287436   ⟹   NP_001274365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
HuRef750,933,696 - 51,234,006 (-)NCBI
CHM1_1751,086,207 - 51,386,564 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287438   ⟹   NP_001274367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,070,828 - 51,316,809 (-)NCBI
HuRef750,933,696 - 51,234,006 (-)NCBI
CHM1_1751,140,760 - 51,386,564 (-)NCBI
T2T-CHM13v2.0751,232,065 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346441   ⟹   NP_001333370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346442   ⟹   NP_001333371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346443   ⟹   NP_001333372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346444   ⟹   NP_001333373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,064,399 - 51,316,809 (-)NCBI
T2T-CHM13v2.0751,225,608 - 51,478,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410881   ⟹   NP_001397810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: NM_015198   ⟹   NP_056013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
GRCh37751,083,909 - 51,384,515 (-)NCBI
Build 36751,051,404 - 51,351,990 (-)NCBI Archive
Celera751,148,737 - 51,449,348 (-)RGD
HuRef750,933,696 - 51,234,006 (-)NCBI
CHM1_1751,086,207 - 51,386,564 (-)NCBI
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
CRA_TCAGchr7v2751,089,893 - 51,390,521 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005271750   ⟹   XP_005271807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
GRCh37751,083,909 - 51,384,515 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005271751   ⟹   XP_005271808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
GRCh37751,083,909 - 51,384,515 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515234   ⟹   XP_011513536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515236   ⟹   XP_011513538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515237   ⟹   XP_011513539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515238   ⟹   XP_011513540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515239   ⟹   XP_011513541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515240   ⟹   XP_011513542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515241   ⟹   XP_011513543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,190,932 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011898   ⟹   XP_016867387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420076   ⟹   XP_047276032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
RefSeq Acc Id: XM_047420077   ⟹   XP_047276033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
RefSeq Acc Id: XM_047420078   ⟹   XP_047276034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
RefSeq Acc Id: XM_047420079   ⟹   XP_047276035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
RefSeq Acc Id: XM_047420080   ⟹   XP_047276036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,016,212 - 51,316,809 (-)NCBI
RefSeq Acc Id: XM_054357677   ⟹   XP_054213652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357678   ⟹   XP_054213653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357679   ⟹   XP_054213654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357680   ⟹   XP_054213655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357681   ⟹   XP_054213656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357682   ⟹   XP_054213657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357683   ⟹   XP_054213658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357684   ⟹   XP_054213659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357685   ⟹   XP_054213660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357686   ⟹   XP_054213661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357687   ⟹   XP_054213662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357688   ⟹   XP_054213663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357689   ⟹   XP_054213664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357690   ⟹   XP_054213665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,478,069 (-)NCBI
RefSeq Acc Id: XM_054357691   ⟹   XP_054213666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0751,177,453 - 51,352,146 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001274365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274367 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333370 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333372 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333373 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397810 (Get FASTA)   NCBI Sequence Viewer  
  NP_056013 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271807 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271808 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513536 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513538 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513539 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513540 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513541 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513542 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513543 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867387 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276034 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276035 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213652 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213653 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213654 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213655 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213656 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213657 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213658 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213659 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213660 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213661 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213662 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213663 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213666 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29275 (Get FASTA)   NCBI Sequence Viewer  
  AAH45771 (Get FASTA)   NCBI Sequence Viewer  
  AAH94695 (Get FASTA)   NCBI Sequence Viewer  
  AAI11497 (Get FASTA)   NCBI Sequence Viewer  
  AAI36442 (Get FASTA)   NCBI Sequence Viewer  
  AAI44100 (Get FASTA)   NCBI Sequence Viewer  
  AAI50264 (Get FASTA)   NCBI Sequence Viewer  
  BAA31608 (Get FASTA)   NCBI Sequence Viewer  
  BAG57272 (Get FASTA)   NCBI Sequence Viewer  
  CAD28543 (Get FASTA)   NCBI Sequence Viewer  
  EAL23896 (Get FASTA)   NCBI Sequence Viewer  
  EAW60962 (Get FASTA)   NCBI Sequence Viewer  
  EAW60963 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265136
  ENSP00000265136.7
  ENSP00000378910
  ENSP00000378910.2
  ENSP00000378912
  ENSP00000378912.3
  ENSP00000391864.1
  ENSP00000399500
  ENSP00000399500.1
  ENSP00000401204
  ENSP00000401204.1
  ENSP00000413498
  ENSP00000413498.1
  ENSP00000413498.2
  ENSP00000488001.1
  ENSP00000497998.1
GenBank Protein O75128 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056013   ⟸   NM_015198
- Peptide Label: isoform b
- UniProtKB: Q8N304 (UniProtKB/Swiss-Prot),   Q86XA7 (UniProtKB/Swiss-Prot),   Q504Y4 (UniProtKB/Swiss-Prot),   Q2T9J3 (UniProtKB/Swiss-Prot),   B9EGF8 (UniProtKB/Swiss-Prot),   B7ZLW9 (UniProtKB/Swiss-Prot),   A7E2B0 (UniProtKB/Swiss-Prot),   A4D257 (UniProtKB/Swiss-Prot),   Q8TCM1 (UniProtKB/Swiss-Prot),   O75128 (UniProtKB/Swiss-Prot),   H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271808   ⟸   XM_005271751
- Peptide Label: isoform X3
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271807   ⟸   XM_005271750
- Peptide Label: isoform X2
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274365   ⟸   NM_001287436
- Peptide Label: isoform a
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274367   ⟸   NM_001287438
- Peptide Label: isoform c
- UniProtKB: A0A0J9YWK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513542   ⟸   XM_011515240
- Peptide Label: isoform X13
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513541   ⟸   XM_011515239
- Peptide Label: isoform X12
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513539   ⟸   XM_011515237
- Peptide Label: isoform X5
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513540   ⟸   XM_011515238
- Peptide Label: isoform X10
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513538   ⟸   XM_011515236
- Peptide Label: isoform X4
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513536   ⟸   XM_011515234
- Peptide Label: isoform X1
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513543   ⟸   XM_011515241
- Peptide Label: isoform X15
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867387   ⟸   XM_017011898
- Peptide Label: isoform X9
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333372   ⟸   NM_001346443
- Peptide Label: isoform f
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333371   ⟸   NM_001346442
- Peptide Label: isoform e
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333370   ⟸   NM_001346441
- Peptide Label: isoform d
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333373   ⟸   NM_001346444
- Peptide Label: isoform g
- UniProtKB: O75128 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497998   ⟸   ENST00000648294
Ensembl Acc Id: ENSP00000399500   ⟸   ENST00000441453
Ensembl Acc Id: ENSP00000401204   ⟸   ENST00000445054
Ensembl Acc Id: ENSP00000413498   ⟸   ENST00000431948
Ensembl Acc Id: ENSP00000391864   ⟸   ENST00000449281
Ensembl Acc Id: ENSP00000378912   ⟸   ENST00000395542
Ensembl Acc Id: ENSP00000378910   ⟸   ENST00000395540
Ensembl Acc Id: ENSP00000488001   ⟸   ENST00000632460
Ensembl Acc Id: ENSP00000265136   ⟸   ENST00000265136
RefSeq Acc Id: XP_047276036   ⟸   XM_047420080
- Peptide Label: isoform X14
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276033   ⟸   XM_047420077
- Peptide Label: isoform X7
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276035   ⟸   XM_047420079
- Peptide Label: isoform X11
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276032   ⟸   XM_047420076
- Peptide Label: isoform X6
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276034   ⟸   XM_047420078
- Peptide Label: isoform X8
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397810   ⟸   NM_001410881
- Peptide Label: isoform h
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213654   ⟸   XM_054357679
- Peptide Label: isoform X3
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213665   ⟸   XM_054357690
- Peptide Label: isoform X14
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213664   ⟸   XM_054357689
- Peptide Label: isoform X13
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213658   ⟸   XM_054357683
- Peptide Label: isoform X7
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213662   ⟸   XM_054357687
- Peptide Label: isoform X11
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213657   ⟸   XM_054357682
- Peptide Label: isoform X6
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213660   ⟸   XM_054357685
- Peptide Label: isoform X9
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213659   ⟸   XM_054357684
- Peptide Label: isoform X8
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213653   ⟸   XM_054357678
- Peptide Label: isoform X2
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213663   ⟸   XM_054357688
- Peptide Label: isoform X12
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213656   ⟸   XM_054357681
- Peptide Label: isoform X5
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213661   ⟸   XM_054357686
- Peptide Label: isoform X10
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213655   ⟸   XM_054357680
- Peptide Label: isoform X4
- UniProtKB: H7C1N2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213652   ⟸   XM_054357677
- Peptide Label: isoform X1
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213666   ⟸   XM_054357691
- Peptide Label: isoform X15
- UniProtKB: J3KR05 (UniProtKB/TrEMBL)
Protein Domains
Cordon-bleu ubiquitin-like   WH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75128-F1-model_v2 AlphaFold O75128 1-1261 view protein structure

Promoters
RGD ID:7210609
Promoter ID:EPDNEW_H11050
Type:initiation region
Name:COBL_1
Description:cordon-bleu WH2 repeat protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,316,809 - 51,316,869EPDNEW
RGD ID:7210611
Promoter ID:EPDNEW_H11051
Type:initiation region
Name:COBL_2
Description:cordon-bleu WH2 repeat protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11050  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38751,316,928 - 51,316,988EPDNEW
RGD ID:6805396
Promoter ID:HG_KWN:57427
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000395542,   NM_015198,   OTTHUMT00000342687,   OTTHUMT00000342690,   UC003TPT.2,   UC010KZC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36751,351,771 - 51,352,322 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22199 AgrOrtholog
COSMIC COBL COSMIC
Ensembl Genes ENSG00000106078 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265136 ENTREZGENE
  ENST00000265136.12 UniProtKB/Swiss-Prot
  ENST00000395540 ENTREZGENE
  ENST00000395540.6 UniProtKB/Swiss-Prot
  ENST00000395542 ENTREZGENE
  ENST00000395542.6 UniProtKB/Swiss-Prot
  ENST00000431948 ENTREZGENE
  ENST00000431948.5 UniProtKB/TrEMBL
  ENST00000431948.6 UniProtKB/Swiss-Prot
  ENST00000441453 ENTREZGENE
  ENST00000441453.5 UniProtKB/Swiss-Prot
  ENST00000445054 ENTREZGENE
  ENST00000445054.5 UniProtKB/TrEMBL
  ENST00000449281.1 UniProtKB/TrEMBL
  ENST00000632460.1 UniProtKB/TrEMBL
  ENST00000648294.1 UniProtKB/TrEMBL
Gene3D-CATH Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106078 GTEx
HGNC ID HGNC:22199 ENTREZGENE
Human Proteome Map COBL Human Proteome Map
InterPro COBL-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cordon-bleu_ubiquitin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-rel_dom UniProtKB/TrEMBL
  WH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23242 UniProtKB/Swiss-Prot
NCBI Gene 23242 ENTREZGENE
OMIM 610317 OMIM
PANTHER PROTEIN CORDON-BLEU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47008 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cobl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134869580 PharmGKB
PROSITE WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/TrEMBL
UniProt A0A0J9YWK3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IU00_HUMAN UniProtKB/TrEMBL
  A4D257 ENTREZGENE
  A7E2B0 ENTREZGENE
  B7ZLW9 ENTREZGENE
  B9EGF8 ENTREZGENE
  C9J9X1_HUMAN UniProtKB/TrEMBL
  COBL_HUMAN UniProtKB/Swiss-Prot
  H7C1N2 ENTREZGENE, UniProtKB/TrEMBL
  J3KR05 ENTREZGENE, UniProtKB/TrEMBL
  L8E9S2_HUMAN UniProtKB/TrEMBL
  O75128 ENTREZGENE
  Q2T9J3 ENTREZGENE
  Q504Y4 ENTREZGENE
  Q86XA7 ENTREZGENE
  Q8N304 ENTREZGENE
  Q8TCM1 ENTREZGENE
UniProt Secondary A4D257 UniProtKB/Swiss-Prot
  A7E2B0 UniProtKB/Swiss-Prot
  B7ZLW9 UniProtKB/Swiss-Prot
  B9EGF8 UniProtKB/Swiss-Prot
  Q2T9J3 UniProtKB/Swiss-Prot
  Q504Y4 UniProtKB/Swiss-Prot
  Q86XA7 UniProtKB/Swiss-Prot
  Q8N304 UniProtKB/Swiss-Prot
  Q8TCM1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 COBL  cordon-bleu WH2 repeat protein    cordon-bleu homolog (mouse)  Symbol and/or name change 5135510 APPROVED