CPNE6 (copine 6) - Rat Genome Database

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Gene: CPNE6 (copine 6) Homo sapiens
Analyze
Symbol: CPNE6
Name: copine 6
RGD ID: 1313396
HGNC Page HGNC:2319
Description: Predicted to enable calcium-dependent phospholipid binding activity and phosphatidylserine binding activity. Involved in positive regulation of dendrite extension. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: copine VI (neuronal); copine-6; N-copine; neuronal copine; neuronal-copine
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,070,949 - 24,078,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,070,837 - 24,078,100 (+)EnsemblGRCh38hg38GRCh38
GRCh371424,540,158 - 24,547,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,610,596 - 23,617,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 341423,610,595 - 23,617,135NCBI
Celera144,405,233 - 4,411,773 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef144,654,979 - 4,662,242 (+)NCBIHuRef
CHM1_11424,538,721 - 24,545,984 (+)NCBICHM1_1
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9430674   PMID:9645480   PMID:9886090   PMID:10403379   PMID:11041869   PMID:12440769   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:20800603  
PMID:21873635   PMID:21900206   PMID:23533145   PMID:23999003   PMID:25356737   PMID:25416956   PMID:25963833   PMID:26723968   PMID:28514442   PMID:29802203   PMID:30021884   PMID:32296183  
PMID:33961781  


Genomics

Comparative Map Data
CPNE6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,070,949 - 24,078,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,070,837 - 24,078,100 (+)EnsemblGRCh38hg38GRCh38
GRCh371424,540,158 - 24,547,296 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,610,596 - 23,617,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 341423,610,595 - 23,617,135NCBI
Celera144,405,233 - 4,411,773 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef144,654,979 - 4,662,242 (+)NCBIHuRef
CHM1_11424,538,721 - 24,545,984 (+)NCBICHM1_1
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBIT2T-CHM13v2.0
Cpne6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391455,747,902 - 55,754,892 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1455,747,902 - 55,754,888 (+)EnsemblGRCm39 Ensembl
GRCm381455,510,445 - 55,517,435 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1455,510,445 - 55,517,431 (+)EnsemblGRCm38mm10GRCm38
MGSCv371456,129,285 - 56,136,268 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361454,465,431 - 54,471,501 (+)NCBIMGSCv36mm8
Celera1453,299,381 - 53,322,268 (+)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1428.19NCBI
Cpne6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81532,968,047 - 32,975,008 (+)NCBIGRCr8
mRatBN7.21528,998,293 - 29,005,044 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1528,998,293 - 29,005,044 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1530,843,996 - 30,850,745 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01531,991,204 - 31,997,955 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01530,233,550 - 30,240,303 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01534,187,229 - 34,194,107 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1534,187,223 - 34,194,118 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01538,077,636 - 38,084,718 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41533,641,687 - 33,648,439 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1528,574,328 - 28,581,077 (+)NCBICelera
Cytogenetic Map15p13NCBI
Cpne6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540936,315,353 - 36,322,646 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540936,315,353 - 36,322,646 (-)NCBIChiLan1.0ChiLan1.0
CPNE6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21525,427,055 - 25,434,189 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11424,643,547 - 24,650,681 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0144,848,845 - 4,856,085 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11422,973,157 - 22,980,341 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1422,973,157 - 22,980,341 (+)Ensemblpanpan1.1panPan2
CPNE6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.184,078,240 - 4,084,744 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl84,046,544 - 4,084,744 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha84,000,102 - 4,006,582 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.084,188,941 - 4,195,467 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.183,879,648 - 3,886,128 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.083,941,388 - 3,947,868 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.084,203,499 - 4,209,979 (+)NCBIUU_Cfam_GSD_1.0
Cpne6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864035,926,748 - 35,934,174 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936722454,775 - 462,990 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936722454,818 - 462,324 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPNE6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl775,213,644 - 75,219,031 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1775,213,643 - 75,219,031 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2780,484,577 - 80,491,174 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CPNE6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,053,980 - 1,061,544 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl241,054,488 - 1,061,578 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603612,735,993 - 12,743,598 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpne6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248208,448,469 - 8,458,884 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248208,451,588 - 8,458,871 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPNE6
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
NM_006032.3(CPNE6):c.228C>T (p.Ala76=) single nucleotide variant Malignant melanoma [RCV000062736] Chr14:24073558 [GRCh38]
Chr14:24542767 [GRCh37]
Chr14:23612607 [NCBI36]
Chr14:14q11.2		 not provided
NM_006032.3(CPNE6):c.229C>T (p.Leu77Phe) single nucleotide variant Malignant melanoma [RCV000062737] Chr14:24073559 [GRCh38]
Chr14:24542768 [GRCh37]
Chr14:23612608 [NCBI36]
Chr14:14q11.2		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile) single nucleotide variant not provided [RCV000709823] Chr14:24075843 [GRCh38]
Chr14:24545052 [GRCh37]
Chr14:14q11.2		 not provided
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1 copy number loss not provided [RCV000995269] Chr14:24505708..24601038 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
NC_000014.8:g.(?_23242819)_(25103366_?)dup duplication Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] Chr14:23242819..25103366 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3 copy number gain not provided [RCV001259179] Chr14:24163771..24818728 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_006032.4(CPNE6):c.1111G>A (p.Glu371Lys) single nucleotide variant Inborn genetic diseases [RCV002951142] Chr14:24076412 [GRCh38]
Chr14:24545621 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.842C>T (p.Thr281Met) single nucleotide variant Inborn genetic diseases [RCV002693234] Chr14:24075569 [GRCh38]
Chr14:24544778 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.950A>G (p.Asn317Ser) single nucleotide variant Inborn genetic diseases [RCV002826280] Chr14:24076174 [GRCh38]
Chr14:24545383 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1519T>G (p.Phe507Val) single nucleotide variant Inborn genetic diseases [RCV002786943] Chr14:24077373 [GRCh38]
Chr14:24546582 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.995G>C (p.Arg332Pro) single nucleotide variant Inborn genetic diseases [RCV002873158] Chr14:24076219 [GRCh38]
Chr14:24545428 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1273C>G (p.Arg425Gly) single nucleotide variant Inborn genetic diseases [RCV003217606] Chr14:24076986 [GRCh38]
Chr14:24546195 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1439G>A (p.Arg480Gln) single nucleotide variant Inborn genetic diseases [RCV003201299] Chr14:24077293 [GRCh38]
Chr14:24546502 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1288G>A (p.Gly430Ser) single nucleotide variant Inborn genetic diseases [RCV003214373] Chr14:24077001 [GRCh38]
Chr14:24546210 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1628C>T (p.Ala543Val) single nucleotide variant Inborn genetic diseases [RCV003357452] Chr14:24077684 [GRCh38]
Chr14:24546893 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.130G>A (p.Val44Met) single nucleotide variant Inborn genetic diseases [RCV003364476] Chr14:24073066 [GRCh38]
Chr14:24542275 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1143C>G (p.Asp381Glu) single nucleotide variant Inborn genetic diseases [RCV003373475] Chr14:24076535 [GRCh38]
Chr14:24545744 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_006032.4(CPNE6):c.1636C>T (p.Pro546Ser) single nucleotide variant Inborn genetic diseases [RCV003364177] Chr14:24077692 [GRCh38]
Chr14:24546901 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_006032.4(CPNE6):c.1582C>A (p.Arg528=) single nucleotide variant not provided [RCV003424984] Chr14:24077638 [GRCh38]
Chr14:24546847 [GRCh37]
Chr14:14q11.2		 likely benign
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1 copy number loss not provided [RCV003483196] Chr14:24445622..28262222 [GRCh37]
Chr14:14q11.2-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5651
Count of miRNA genes:1026
Interacting mature miRNAs:1297
Transcripts:ENST00000216775, ENST00000397016, ENST00000460657, ENST00000537691, ENST00000557829, ENST00000557889, ENST00000558450, ENST00000558541, ENST00000558795, ENST00000558859, ENST00000558995, ENST00000559197, ENST00000559207, ENST00000559778, ENST00000560092, ENST00000560356, ENST00000560761, ENST00000560828, ENST00000560845, ENST00000560884
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH66347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,546,852 - 24,547,136UniSTSGRCh37
Build 361423,616,692 - 23,616,976RGDNCBI36
Celera144,411,329 - 4,411,613RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,661,785 - 4,662,069UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
NCBI RH Map1431.0UniSTS
STS-F02322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,538,807 - 24,538,882UniSTSGRCh37
Build 361423,608,647 - 23,608,722RGDNCBI36
Celera144,403,286 - 4,403,361RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,653,742 - 4,653,817UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
NCBI RH Map1438.0UniSTS
SHGC-32365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,538,785 - 24,538,917UniSTSGRCh37
Build 361423,608,625 - 23,608,757RGDNCBI36
Celera144,403,264 - 4,403,396RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,653,720 - 4,653,852UniSTS
Stanford-G3 RH Map14376.0UniSTS
NCBI RH Map1436.7UniSTS
GeneMap99-G3 RH Map14376.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 9 185 10 2668 19 30 1 1 9
Low 1375 753 245 40 187 40 810 513 359 87 613 123 2 1 107 638
Below cutoff 924 1966 1053 392 1220 267 2947 1499 553 93 586 1146 126 894 1957 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001280558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB009288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW157471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX118572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB481985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000397016   ⟹   ENSP00000380211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,070,837 - 24,078,100 (+)Ensembl
RefSeq Acc Id: ENST00000460657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,589 - 24,078,086 (+)Ensembl
RefSeq Acc Id: ENST00000537691   ⟹   ENSP00000440077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,070,837 - 24,078,098 (+)Ensembl
RefSeq Acc Id: ENST00000557829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,075,558 - 24,078,087 (+)Ensembl
RefSeq Acc Id: ENST00000557889   ⟹   ENSP00000454166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,187 - 24,073,094 (+)Ensembl
RefSeq Acc Id: ENST00000558450   ⟹   ENSP00000454093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,070,897 - 24,074,095 (+)Ensembl
RefSeq Acc Id: ENST00000558541   ⟹   ENSP00000453352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,360 - 24,075,177 (+)Ensembl
RefSeq Acc Id: ENST00000558795   ⟹   ENSP00000454172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,562 - 24,075,511 (+)Ensembl
RefSeq Acc Id: ENST00000558859   ⟹   ENSP00000453326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,522 - 24,074,726 (+)Ensembl
RefSeq Acc Id: ENST00000558995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,070,949 - 24,078,086 (+)Ensembl
RefSeq Acc Id: ENST00000559197   ⟹   ENSP00000452826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,532 - 24,074,311 (+)Ensembl
RefSeq Acc Id: ENST00000559207   ⟹   ENSP00000452653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,581 - 24,075,584 (+)Ensembl
RefSeq Acc Id: ENST00000559778   ⟹   ENSP00000453483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,017 - 24,073,647 (+)Ensembl
RefSeq Acc Id: ENST00000560092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,525 - 24,074,301 (+)Ensembl
RefSeq Acc Id: ENST00000560356   ⟹   ENSP00000454192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,070,848 - 24,074,125 (+)Ensembl
RefSeq Acc Id: ENST00000560761   ⟹   ENSP00000454075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,090 - 24,074,314 (+)Ensembl
RefSeq Acc Id: ENST00000560828   ⟹   ENSP00000453261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,532 - 24,074,582 (+)Ensembl
RefSeq Acc Id: ENST00000560845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,075,831 - 24,076,840 (+)Ensembl
RefSeq Acc Id: ENST00000560884   ⟹   ENSP00000452884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,550 - 24,074,311 (+)Ensembl
RefSeq Acc Id: ENST00000689861   ⟹   ENSP00000510387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,071,562 - 24,078,087 (+)Ensembl
RefSeq Acc Id: NM_001280558   ⟹   NP_001267487
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,070,949 - 24,078,087 (+)NCBI
HuRef144,654,979 - 4,662,242 (+)NCBI
CHM1_11424,538,721 - 24,545,984 (+)NCBI
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385056   ⟹   NP_001371985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,070,949 - 24,078,087 (+)NCBI
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385057   ⟹   NP_001371986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,070,949 - 24,078,087 (+)NCBI
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385058   ⟹   NP_001371987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,070,949 - 24,078,087 (+)NCBI
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006032   ⟹   NP_006023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,071,562 - 24,078,087 (+)NCBI
GRCh371424,540,046 - 24,547,309 (+)NCBI
Build 361423,610,596 - 23,617,136 (+)NCBI Archive
Celera144,405,233 - 4,411,773 (+)RGD
HuRef144,654,979 - 4,662,242 (+)NCBI
CHM1_11424,539,231 - 24,545,984 (+)NCBI
T2T-CHM13v2.01418,269,878 - 18,276,403 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169564
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,070,949 - 24,078,087 (+)NCBI
T2T-CHM13v2.01418,269,265 - 18,276,403 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_006023   ⟸   NM_006032
- Peptide Label: isoform 2
- UniProtKB: Q53HA6 (UniProtKB/Swiss-Prot),   F5GXN1 (UniProtKB/Swiss-Prot),   D3DS55 (UniProtKB/Swiss-Prot),   B7Z1M3 (UniProtKB/Swiss-Prot),   B2RAG6 (UniProtKB/Swiss-Prot),   Q8WVG1 (UniProtKB/Swiss-Prot),   O95741 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001267487   ⟸   NM_001280558
- Peptide Label: isoform 1
- UniProtKB: O95741 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000454166   ⟸   ENST00000557889
RefSeq Acc Id: ENSP00000453352   ⟸   ENST00000558541
RefSeq Acc Id: ENSP00000454093   ⟸   ENST00000558450
RefSeq Acc Id: ENSP00000453326   ⟸   ENST00000558859
RefSeq Acc Id: ENSP00000454172   ⟸   ENST00000558795
RefSeq Acc Id: ENSP00000452653   ⟸   ENST00000559207
RefSeq Acc Id: ENSP00000453483   ⟸   ENST00000559778
RefSeq Acc Id: ENSP00000452826   ⟸   ENST00000559197
RefSeq Acc Id: ENSP00000454192   ⟸   ENST00000560356
RefSeq Acc Id: ENSP00000453261   ⟸   ENST00000560828
RefSeq Acc Id: ENSP00000452884   ⟸   ENST00000560884
RefSeq Acc Id: ENSP00000454075   ⟸   ENST00000560761
RefSeq Acc Id: ENSP00000440077   ⟸   ENST00000537691
RefSeq Acc Id: ENSP00000380211   ⟸   ENST00000397016
RefSeq Acc Id: NP_001371985   ⟸   NM_001385056
- Peptide Label: isoform 2
- UniProtKB: Q53HA6 (UniProtKB/Swiss-Prot),   O95741 (UniProtKB/Swiss-Prot),   F5GXN1 (UniProtKB/Swiss-Prot),   D3DS55 (UniProtKB/Swiss-Prot),   B7Z1M3 (UniProtKB/Swiss-Prot),   B2RAG6 (UniProtKB/Swiss-Prot),   Q8WVG1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001371987   ⟸   NM_001385058
- Peptide Label: isoform 2
- UniProtKB: Q53HA6 (UniProtKB/Swiss-Prot),   O95741 (UniProtKB/Swiss-Prot),   F5GXN1 (UniProtKB/Swiss-Prot),   D3DS55 (UniProtKB/Swiss-Prot),   B7Z1M3 (UniProtKB/Swiss-Prot),   B2RAG6 (UniProtKB/Swiss-Prot),   Q8WVG1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001371986   ⟸   NM_001385057
- Peptide Label: isoform 2
- UniProtKB: Q53HA6 (UniProtKB/Swiss-Prot),   O95741 (UniProtKB/Swiss-Prot),   F5GXN1 (UniProtKB/Swiss-Prot),   D3DS55 (UniProtKB/Swiss-Prot),   B7Z1M3 (UniProtKB/Swiss-Prot),   B2RAG6 (UniProtKB/Swiss-Prot),   Q8WVG1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000510387   ⟸   ENST00000689861
Protein Domains
C2   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95741-F1-model_v2 AlphaFold O95741 1-557 view protein structure

Promoters
RGD ID:6791385
Promoter ID:HG_KWN:19059
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_006032,   OTTHUMT00000071870,   UC001WLM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361423,610,236 - 23,610,736 (+)MPROMDB
RGD ID:6791384
Promoter ID:HG_KWN:19060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001WLN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361423,614,464 - 23,614,964 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2319 AgrOrtholog
COSMIC CPNE6 COSMIC
Ensembl Genes ENSG00000100884 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285221 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000397016 ENTREZGENE
  ENST00000397016.6 UniProtKB/Swiss-Prot
  ENST00000537691 ENTREZGENE
  ENST00000537691.5 UniProtKB/Swiss-Prot
  ENST00000557889.1 UniProtKB/TrEMBL
  ENST00000558450.5 UniProtKB/TrEMBL
  ENST00000558541.5 UniProtKB/TrEMBL
  ENST00000558795.1 UniProtKB/TrEMBL
  ENST00000558859.5 UniProtKB/TrEMBL
  ENST00000559197.5 UniProtKB/TrEMBL
  ENST00000559207.1 UniProtKB/TrEMBL
  ENST00000559778.5 UniProtKB/TrEMBL
  ENST00000560356.5 UniProtKB/TrEMBL
  ENST00000560761.5 UniProtKB/TrEMBL
  ENST00000560828.5 UniProtKB/TrEMBL
  ENST00000560884.5 UniProtKB/TrEMBL
  ENST00000645359.1 UniProtKB/Swiss-Prot
  ENST00000647071.1 UniProtKB/Swiss-Prot
  ENST00000689861 ENTREZGENE
  ENST00000689861.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100884 GTEx
  ENSG00000285221 GTEx
HGNC ID HGNC:2319 ENTREZGENE
Human Proteome Map CPNE6 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2B_Copine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Copine UniProtKB/Swiss-Prot
  Copine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Copine UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9362 UniProtKB/Swiss-Prot
NCBI Gene 9362 ENTREZGENE
OMIM 605688 OMIM
PANTHER COPINE-6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10857 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Copine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26836 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RAG6 ENTREZGENE
  B3KWK1_HUMAN UniProtKB/TrEMBL
  B7Z1M3 ENTREZGENE
  CPNE6_HUMAN UniProtKB/Swiss-Prot
  D3DS55 ENTREZGENE
  F5GXN1 ENTREZGENE
  H0YK44_HUMAN UniProtKB/TrEMBL
  H0YKJ0_HUMAN UniProtKB/TrEMBL
  H0YKP1_HUMAN UniProtKB/TrEMBL
  H0YLM2_HUMAN UniProtKB/TrEMBL
  H0YLS9_HUMAN UniProtKB/TrEMBL
  H0YLV2_HUMAN UniProtKB/TrEMBL
  H0YM67_HUMAN UniProtKB/TrEMBL
  H0YNM7_HUMAN UniProtKB/TrEMBL
  H0YNP2_HUMAN UniProtKB/TrEMBL
  H0YNV2_HUMAN UniProtKB/TrEMBL
  H0YNV6_HUMAN UniProtKB/TrEMBL
  H0YNX4_HUMAN UniProtKB/TrEMBL
  O95741 ENTREZGENE
  Q53HA6 ENTREZGENE
  Q8WVG1 ENTREZGENE
UniProt Secondary B2RAG6 UniProtKB/Swiss-Prot
  B7Z1M3 UniProtKB/Swiss-Prot
  D3DS55 UniProtKB/Swiss-Prot
  F5GXN1 UniProtKB/Swiss-Prot
  Q53HA6 UniProtKB/Swiss-Prot
  Q8WVG1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 CPNE6  copine 6  CPNE6  copine VI (neuronal)  Symbol and/or name change 5135510 APPROVED