CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8) - Rat Genome Database

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Gene: CPAMD8 (C3 and PZP like alpha-2-macroglobulin domain containing 8) Homo sapiens
Analyze
Symbol: CPAMD8
Name: C3 and PZP like alpha-2-macroglobulin domain containing 8
RGD ID: 1347044
HGNC Page HGNC:23228
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Involved in eye development. Predicted to be located in extracellular space and plasma membrane. Implicated in anterior segment dysgenesis 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-2 macroglobulin family protein VIP; ASGD8; C3 and PZP like, alpha-2-macroglobulin domain containing 8; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8; C3 and PZP-like, alpha-2-macroglobulin domain containing 8; FLJ42058; FLJ90618; K-CAP; KIAA1283; VIP
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AC060834.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381916,892,951 - 17,026,810 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1916,892,951 - 17,026,815 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,003,762 - 17,137,620 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361916,864,762 - 16,998,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 341916,864,757 - 16,998,469NCBI
Celera1916,905,293 - 17,039,135 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,572,311 - 16,706,035 (-)NCBIHuRef
CHM1_11917,003,505 - 17,137,316 (-)NCBICHM1_1
T2T-CHM13v2.01917,027,788 - 17,161,726 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. 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:1335692   PMID:10574462   PMID:11696365   PMID:12477932   PMID:14702039   PMID:15177561   PMID:15342556   PMID:16344560   PMID:19010793   PMID:19913121   PMID:20628086   PMID:22412388  
PMID:27839872   PMID:28611215   PMID:30021884   PMID:32085876   PMID:32274568  


Genomics

Comparative Map Data
CPAMD8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381916,892,951 - 17,026,810 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1916,892,951 - 17,026,815 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,003,762 - 17,137,620 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361916,864,762 - 16,998,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 341916,864,757 - 16,998,469NCBI
Celera1916,905,293 - 17,039,135 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,572,311 - 16,706,035 (-)NCBIHuRef
CHM1_11917,003,505 - 17,137,316 (-)NCBICHM1_1
T2T-CHM13v2.01917,027,788 - 17,161,726 (-)NCBIT2T-CHM13v2.0
Gm7298
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396121,711,454 - 121,761,598 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6121,709,891 - 121,766,043 (+)EnsemblGRCm39 Ensembl
GRCm386121,734,495 - 121,784,639 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6121,732,932 - 121,789,084 (+)EnsemblGRCm38mm10GRCm38
MGSCv376121,683,048 - 121,778,439 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366121,665,588 - 121,785,435 (+)NCBIMGSCv36mm8
Celera6123,568,759 - 123,664,182 (+)NCBICelera
Cytogenetic Map6F1NCBI
Cpamd8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24155,332,827 - 155,413,098 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4155,332,827 - 155,413,117 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4161,588,596 - 161,675,244 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.04157,372,061 - 157,458,702 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.04156,022,423 - 156,102,746 (-)NCBIRnor_WKY
Rnor_6.04154,780,044 - 154,997,086 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01620,088,212 - 20,123,412 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.04221,863,188 - 221,938,246 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.04222,022,600 - 222,025,080 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44158,543,846 - 158,630,795 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4144,156,011 - 144,232,063 (-)NCBICelera
Cytogenetic Map4q42NCBI
CPAMD8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11917,359,377 - 17,487,782 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01916,379,956 - 16,513,841 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CPAMD8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12045,659,795 - 45,737,492 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2045,653,620 - 45,736,931 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2045,573,885 - 45,650,980 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02046,146,643 - 46,223,500 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2046,146,504 - 46,223,493 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12045,382,920 - 45,459,688 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02045,792,837 - 45,870,299 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02046,069,060 - 46,145,901 (+)NCBIUU_Cfam_GSD_1.0
Cpamd8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118204,207,309 - 204,270,699 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365963,756,446 - 3,819,840 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPAMD8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl260,636,047 - 60,742,137 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1260,636,025 - 60,742,120 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2260,199,691 - 60,306,370 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CPAMD8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1615,401,910 - 15,521,797 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl615,402,051 - 15,521,390 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660743,912,051 - 4,035,889 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Position Markers
F2RL3_2451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,008,909 - 17,009,617UniSTSGRCh37
Build 361916,869,909 - 16,870,617RGDNCBI36
Celera1916,910,442 - 16,911,150RGD
HuRef1916,577,460 - 16,578,168UniSTS
D7S2816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3779,764,563 - 9,764,743UniSTSGRCh37
Build 3679,731,088 - 9,731,268RGDNCBI36
Celera79,739,941 - 9,740,121RGD
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p21.3UniSTS
HuRef79,622,170 - 9,622,350UniSTS
CRA_TCAGchr7v279,818,351 - 9,818,531UniSTS
Whitehead-RH Map748.5UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7162.0UniSTS
G29028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,016,983 - 17,017,292UniSTSGRCh37
Build 361916,877,983 - 16,878,292RGDNCBI36
Celera1916,918,517 - 16,918,826RGD
Cytogenetic Map19p13.11UniSTS
HuRef1916,585,534 - 16,585,839UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6378
Count of miRNA genes:1149
Interacting mature miRNAs:1452
Transcripts:ENST00000291440, ENST00000388925, ENST00000443236, ENST00000593420, ENST00000593739, ENST00000594249, ENST00000595323, ENST00000596224, ENST00000596572, ENST00000597335, ENST00000597709, ENST00000598104, ENST00000598547, ENST00000598792, ENST00000599287, ENST00000600235, ENST00000601637, ENST00000601782, ENST00000602132, ENST00000602159
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 32 556 513 9 3 2 517 144 161 80 451 999 8 321 277 1
Low 2218 2069 889 301 1143 146 3653 1973 2782 282 931 435 158 1 883 2454 3
Below cutoff 129 360 306 301 702 305 154 68 732 47 57 126 5 57

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI670110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY101765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP302427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA421477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA368557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000291440   ⟹   ENSP00000291440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,957,547 - 17,026,815 (-)Ensembl
RefSeq Acc Id: ENST00000388925   ⟹   ENSP00000373577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,892,952 - 17,026,815 (-)Ensembl
RefSeq Acc Id: ENST00000443236   ⟹   ENSP00000402505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,892,951 - 17,026,810 (-)Ensembl
RefSeq Acc Id: ENST00000593420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,947,082 - 16,976,068 (-)Ensembl
RefSeq Acc Id: ENST00000593739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,896,196 - 16,896,893 (-)Ensembl
RefSeq Acc Id: ENST00000594249   ⟹   ENSP00000471545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,893,109 - 16,896,973 (-)Ensembl
RefSeq Acc Id: ENST00000595323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,896,473 - 16,897,392 (-)Ensembl
RefSeq Acc Id: ENST00000596224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,892,958 - 16,896,941 (-)Ensembl
RefSeq Acc Id: ENST00000596572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,896,039 - 16,896,944 (-)Ensembl
RefSeq Acc Id: ENST00000597335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,893,739 - 16,896,973 (-)Ensembl
RefSeq Acc Id: ENST00000597709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,894,353 - 16,898,108 (-)Ensembl
RefSeq Acc Id: ENST00000598104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,895,865 - 16,896,973 (-)Ensembl
RefSeq Acc Id: ENST00000598547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,893,844 - 16,896,923 (-)Ensembl
RefSeq Acc Id: ENST00000598792   ⟹   ENSP00000473216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,894,008 - 16,896,215 (-)Ensembl
RefSeq Acc Id: ENST00000599287   ⟹   ENSP00000469163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,896,229 - 16,899,549 (-)Ensembl
RefSeq Acc Id: ENST00000600235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,892,954 - 16,896,973 (-)Ensembl
RefSeq Acc Id: ENST00000601637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,000,206 - 17,002,530 (-)Ensembl
RefSeq Acc Id: ENST00000601782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,894,083 - 16,897,889 (-)Ensembl
RefSeq Acc Id: ENST00000602132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,893,837 - 16,896,904 (-)Ensembl
RefSeq Acc Id: ENST00000602159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,951,989 - 16,971,125 (-)Ensembl
RefSeq Acc Id: ENST00000651564   ⟹   ENSP00000498697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,892,951 - 17,026,642 (-)Ensembl
RefSeq Acc Id: ENST00000682780   ⟹   ENSP00000508109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1916,902,766 - 16,914,461 (-)Ensembl
RefSeq Acc Id: NM_015692   ⟹   NP_056507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
GRCh371917,003,762 - 17,137,625 (-)RGD
Build 361916,864,762 - 16,998,625 (-)NCBI Archive
Celera1916,905,293 - 17,039,135 (-)RGD
HuRef1916,572,311 - 16,706,035 (-)RGD
CHM1_11917,003,505 - 17,137,316 (-)NCBI
T2T-CHM13v2.01917,027,788 - 17,161,726 (-)NCBI
CRA_TCAGchr7v2199,819,485 - 9,821,700 (+)RGD
Sequence:
RefSeq Acc Id: NR_147452
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 16,896,947 (-)NCBI
T2T-CHM13v2.01917,027,788 - 17,031,786 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165644
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,957,550 - 17,026,810 (-)NCBI
T2T-CHM13v2.01917,092,364 - 17,161,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527917   ⟹   XP_011526219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527918   ⟹   XP_011526220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527919   ⟹   XP_011526221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527920   ⟹   XP_011526222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527921   ⟹   XP_011526223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527922   ⟹   XP_011526224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527923   ⟹   XP_011526225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,894,173 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527924   ⟹   XP_011526226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527925   ⟹   XP_011526227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 16,975,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026594   ⟹   XP_016882083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,896,176 - 17,026,810 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438612   ⟹   XP_047294568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,810 (-)NCBI
RefSeq Acc Id: XM_047438613   ⟹   XP_047294569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,475 (-)NCBI
RefSeq Acc Id: XM_047438614   ⟹   XP_047294570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,892,951 - 17,026,132 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_056507   ⟸   NM_015692
- Peptide Label: precursor
- UniProtKB: Q9ULD7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526219   ⟸   XM_011527917
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526223   ⟸   XM_011527921
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526220   ⟸   XM_011527918
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526221   ⟸   XM_011527919
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011526227   ⟸   XM_011527925
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011526224   ⟸   XM_011527922
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526225   ⟸   XM_011527923
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526226   ⟸   XM_011527924
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011526222   ⟸   XM_011527920
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016882083   ⟸   XM_017026594
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000291440   ⟸   ENST00000291440
RefSeq Acc Id: ENSP00000473216   ⟸   ENST00000598792
RefSeq Acc Id: ENSP00000373577   ⟸   ENST00000388925
RefSeq Acc Id: ENSP00000469163   ⟸   ENST00000599287
RefSeq Acc Id: ENSP00000498697   ⟸   ENST00000651564
RefSeq Acc Id: ENSP00000402505   ⟸   ENST00000443236
RefSeq Acc Id: ENSP00000471545   ⟸   ENST00000594249
RefSeq Acc Id: ENSP00000508109   ⟸   ENST00000682780
RefSeq Acc Id: XP_047294568   ⟸   XM_047438612
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047294569   ⟸   XM_047438613
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047294570   ⟸   XM_047438614
- Peptide Label: isoform X8
Protein Domains
Kazal-like   MG2   MG3   MG4   TED_complement

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IZJ3-F1-model_v2 AlphaFold Q8IZJ3 1-1885 view protein structure

Promoters
RGD ID:6811536
Promoter ID:HG_ACW:40371
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:CPAMD8.EAPR07,   CPAMD8.GAPR07,   CPAMD8.HAPR07,   CPAMD8.KAPR07,   CPAMD8.LAPR07,   CPAMD8.MAPR07,   CPAMD8.NAPR07,   CPAMD8.OAPR07,   CPAMD8.PAPR07,   CPAMD8.QAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361916,868,696 - 16,869,552 (-)MPROMDB
RGD ID:7238983
Promoter ID:EPDNEW_H25237
Type:initiation region
Name:CPAMD8_2
Description:C3 and PZP like, alpha-2-macroglobulin domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25238  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,026,801 - 17,026,861EPDNEW
RGD ID:7238985
Promoter ID:EPDNEW_H25238
Type:initiation region
Name:CPAMD8_1
Description:C3 and PZP like, alpha-2-macroglobulin domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25237  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,026,929 - 17,026,989EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
NM_015692.2(CPAMD8):c.3141C>T (p.Ile1047=) single nucleotide variant Malignant melanoma [RCV000071991] Chr19:16929086 [GRCh38]
Chr19:17039896 [GRCh37]
Chr19:16900896 [NCBI36]
Chr19:19p13.11
not provided
NM_015692.2(CPAMD8):c.1774C>T (p.Leu592Phe) single nucleotide variant Malignant melanoma [RCV000071992] Chr19:16977493 [GRCh38]
Chr19:17088303 [GRCh37]
Chr19:16949303 [NCBI36]
Chr19:19p13.11
not provided
NM_015692.2(CPAMD8):c.1079G>A (p.Arg360Gln) single nucleotide variant Malignant melanoma [RCV000071993] Chr19:16997268 [GRCh38]
Chr19:17108078 [GRCh37]
Chr19:16969078 [NCBI36]
Chr19:19p13.11
not provided
NM_015692.2(CPAMD8):c.627G>A (p.Lys209=) single nucleotide variant Malignant melanoma [RCV000071994] Chr19:17011464 [GRCh38]
Chr19:17122274 [GRCh37]
Chr19:16983274 [NCBI36]
Chr19:19p13.11
not provided
NM_015692.2(CPAMD8):c.4420G>C (p.Ala1474Pro) single nucleotide variant Malignant melanoma [RCV000063457] Chr19:16903830 [GRCh38]
Chr19:17014640 [GRCh37]
Chr19:16875640 [NCBI36]
Chr19:19p13.11
not provided
NM_015692.5(CPAMD8):c.1689C>A (p.Tyr563Ter) single nucleotide variant Anterior segment dysgenesis 8 [RCV001294221] Chr19:16977437 [GRCh38]
Chr19:17088247 [GRCh37]
Chr19:19p13.11
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1 copy number loss See cases [RCV000134176] Chr19:14154962..16914313 [GRCh38]
Chr19:14265774..17025123 [GRCh37]
Chr19:14126774..16886123 [NCBI36]
Chr19:19p13.12-13.11
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:16892429-16926210)x1 copy number loss See cases [RCV000136763] Chr19:16892429..16926210 [GRCh38]
Chr19:17003240..17037020 [GRCh37]
Chr19:16864240..16898020 [NCBI36]
Chr19:19p13.11
benign
GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3 copy number gain See cases [RCV000240162] Chr19:17001280..17536087 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr) single nucleotide variant Ductal breast carcinoma [RCV000207116] Chr19:16906964 [GRCh38]
Chr19:17017774 [GRCh37]
Chr19:19p13.11
likely pathogenic|uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs) duplication Anterior segment dysgenesis 8 [RCV000416324] Chr19:16970892..16970893 [GRCh38]
Chr19:17081702..17081703 [GRCh37]
Chr19:19p13.11
pathogenic
NM_015692.5(CPAMD8):c.4408-1G>A single nucleotide variant Anterior segment dysgenesis 8 [RCV000416350]|Anterior segment dysgenesis [RCV001200034] Chr19:16903624 [GRCh38]
Chr19:17014434 [GRCh37]
Chr19:19p13.11
pathogenic|likely pathogenic
NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro) single nucleotide variant Anterior segment dysgenesis 8 [RCV000416368] Chr19:16904267 [GRCh38]
Chr19:17015077 [GRCh37]
Chr19:19p13.11
pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 copy number loss not provided [RCV000487468] Chr19:15970389..17893528 [GRCh37]
Chr19:19p13.12-13.11
pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1 copy number loss See cases [RCV000511230] Chr19:15921132..17479860 [GRCh37]
Chr19:19p13.12-13.11
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
Single allele duplication not provided [RCV000678022] Chr19:17001280..17536087 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.11(chr19:17007351-17007551)x0 copy number loss not provided [RCV000740062] Chr19:17007351..17007551 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4773+161C>A single nucleotide variant not provided [RCV001667277] Chr19:16901049 [GRCh38]
Chr19:17011860 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.267+166C>G single nucleotide variant not provided [RCV001681028] Chr19:17020165 [GRCh38]
Chr19:17130975 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4251+165C>T single nucleotide variant not provided [RCV001681103] Chr19:16904061 [GRCh38]
Chr19:17014871 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2663-187A>G single nucleotide variant not provided [RCV001609598] Chr19:16945866 [GRCh38]
Chr19:17056676 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4773+68dup duplication not provided [RCV001691670] Chr19:16901139..16901140 [GRCh38]
Chr19:17011950..17011951 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2793+65C>G single nucleotide variant not provided [RCV001534857] Chr19:16945484 [GRCh38]
Chr19:17056294 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3787-3C>T single nucleotide variant not provided [RCV001680662] Chr19:16914501 [GRCh38]
Chr19:17025311 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1585+166C>A single nucleotide variant not provided [RCV001708314] Chr19:16980331 [GRCh38]
Chr19:17091141 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1617C>A (p.Asp539Glu) single nucleotide variant not provided [RCV001647798] Chr19:16977509 [GRCh38]
Chr19:17088319 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2276+42G>C single nucleotide variant not provided [RCV001612155] Chr19:16957811 [GRCh38]
Chr19:17068621 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.5426+40T>G single nucleotide variant not provided [RCV001690651] Chr19:16896136 [GRCh38]
Chr19:17006947 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2124C>T (p.Asp708=) single nucleotide variant not provided [RCV001690204] Chr19:16970980 [GRCh38]
Chr19:17081790 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1296T>C (p.Pro432=) single nucleotide variant not provided [RCV001610868] Chr19:16989742 [GRCh38]
Chr19:17100552 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.5638A>G (p.Asn1880Asp) single nucleotide variant not provided [RCV000881163] Chr19:16893128 [GRCh38]
Chr19:17003939 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4955-9G>T single nucleotide variant not provided [RCV000967507] Chr19:16897810 [GRCh38]
Chr19:17008621 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.964G>A (p.Val322Met) single nucleotide variant not provided [RCV000949419] Chr19:16997242 [GRCh38]
Chr19:17108052 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4470+10T>G single nucleotide variant not provided [RCV000972337] Chr19:16903551 [GRCh38]
Chr19:17014361 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1716C>T (p.Ala572=) single nucleotide variant not provided [RCV000923289] Chr19:16977410 [GRCh38]
Chr19:17088220 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.1845C>T (p.Cys615=) single nucleotide variant not provided [RCV000972553] Chr19:16976065 [GRCh38]
Chr19:17086875 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.2346C>T (p.Ala782=) single nucleotide variant not provided [RCV000901174] Chr19:16952131 [GRCh38]
Chr19:17062941 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.1116T>C (p.Asp372=) single nucleotide variant not provided [RCV000973223] Chr19:16993566 [GRCh38]
Chr19:17104376 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.867+8A>G single nucleotide variant not provided [RCV000971672] Chr19:17000406 [GRCh38]
Chr19:17111216 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.382G>A (p.Ala128Thr) single nucleotide variant not provided [RCV000898331] Chr19:17011643 [GRCh38]
Chr19:17122453 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.4960G>C (p.Glu1654Gln) single nucleotide variant not provided [RCV000896046] Chr19:16897796 [GRCh38]
Chr19:17008607 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.1713C>T (p.Val571=) single nucleotide variant not provided [RCV000962698] Chr19:16977413 [GRCh38]
Chr19:17088223 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.808G>A (p.Val270Ile) single nucleotide variant not provided [RCV000909213] Chr19:17000473 [GRCh38]
Chr19:17111283 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.2244C>T (p.Pro748=) single nucleotide variant not provided [RCV000884146] Chr19:16957885 [GRCh38]
Chr19:17068695 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4261G>A (p.Val1421Met) single nucleotide variant not provided [RCV000906191] Chr19:16903848 [GRCh38]
Chr19:17014658 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.4407+7G>A single nucleotide variant not provided [RCV000971828] Chr19:16903695 [GRCh38]
Chr19:17014505 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3658G>A (p.Ala1220Thr) single nucleotide variant not provided [RCV000959543] Chr19:16914785 [GRCh38]
Chr19:17025595 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.889G>A (p.Asp297Asn) single nucleotide variant not provided [RCV000958447] Chr19:16997317 [GRCh38]
Chr19:17108127 [GRCh37]
Chr19:19p13.11
benign
GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1 copy number loss not provided [RCV000848728] Chr19:16875725..17477318 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.4383C>T (p.Asn1461=) single nucleotide variant not provided [RCV000894713] Chr19:16903726 [GRCh38]
Chr19:17014536 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.3822C>T (p.Tyr1274=) single nucleotide variant not provided [RCV000896350] Chr19:16914463 [GRCh38]
Chr19:17025273 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val) single nucleotide variant Anterior segment dysgenesis [RCV001200035] Chr19:16929078 [GRCh38]
Chr19:17039888 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_015692.5(CPAMD8):c.504+158C>T single nucleotide variant not provided [RCV001663053] Chr19:17009145 [GRCh38]
Chr19:17119955 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1758+57A>G single nucleotide variant not provided [RCV001675133] Chr19:16977311 [GRCh38]
Chr19:17088121 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.759-79T>C single nucleotide variant not provided [RCV001714745] Chr19:17000601 [GRCh38]
Chr19:17111411 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.758+75G>T single nucleotide variant not provided [RCV001608418] Chr19:17002191 [GRCh38]
Chr19:17113001 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1267-20T>C single nucleotide variant not provided [RCV001684309] Chr19:16989791 [GRCh38]
Chr19:17100601 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.487-172C>T single nucleotide variant not provided [RCV001687099] Chr19:17009492 [GRCh38]
Chr19:17120302 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3548-173A>G single nucleotide variant not provided [RCV001659179] Chr19:16922159 [GRCh38]
Chr19:17032969 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.504+207del deletion not provided [RCV001709998] Chr19:17009096 [GRCh38]
Chr19:17119906 [GRCh37]
Chr19:19p13.11
benign
Single allele microsatellite not provided [RCV001669769] Chr19:17026860..17026861 [GRCh38]
Chr19:17137670..17137671 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3144+117A>G single nucleotide variant not provided [RCV001691345] Chr19:16928825 [GRCh38]
Chr19:17039635 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1758+198G>A single nucleotide variant not provided [RCV001696449] Chr19:16977170 [GRCh38]
Chr19:17087980 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1524A>C (p.Arg508=) single nucleotide variant not provided [RCV001654449] Chr19:16980558 [GRCh38]
Chr19:17091368 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3629+156A>G single nucleotide variant not provided [RCV001709356] Chr19:16921749 [GRCh38]
Chr19:17032559 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.963G>A (p.Met321Ile) single nucleotide variant not provided [RCV001689085] Chr19:16997243 [GRCh38]
Chr19:17108053 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1909-220T>A single nucleotide variant not provided [RCV001670188] Chr19:16975478 [GRCh38]
Chr19:17086288 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.505-191A>G single nucleotide variant not provided [RCV001639956] Chr19:17008750 [GRCh38]
Chr19:17119560 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.504+190G>A single nucleotide variant not provided [RCV001614368] Chr19:17009113 [GRCh38]
Chr19:17119923 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2207C>A (p.Pro736His) single nucleotide variant not provided [RCV001609152] Chr19:16970897 [GRCh38]
Chr19:17081707 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3547+108G>T single nucleotide variant not provided [RCV001643967] Chr19:16925088 [GRCh38]
Chr19:17035898 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.881G>A (p.Arg294Gln) single nucleotide variant not provided [RCV001673563] Chr19:16997325 [GRCh38]
Chr19:17108135 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.5179G>A (p.Asp1727Asn) single nucleotide variant not provided [RCV001654853] Chr19:16896552 [GRCh38]
Chr19:17007363 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.268-81C>T single nucleotide variant not provided [RCV001676868] Chr19:17011838 [GRCh38]
Chr19:17122648 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1536G>A (p.Ala512=) single nucleotide variant not provided [RCV000961631] Chr19:16980546 [GRCh38]
Chr19:17091356 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1899T>A (p.Thr633=) single nucleotide variant not provided [RCV000932353] Chr19:16976011 [GRCh38]
Chr19:17086821 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.4455C>T (p.Gly1485=) single nucleotide variant not provided [RCV000888091] Chr19:16903576 [GRCh38]
Chr19:17014386 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2097C>A (p.Asp699Glu) single nucleotide variant not provided [RCV000883531] Chr19:16971007 [GRCh38]
Chr19:17081817 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3529A>G (p.Thr1177Ala) single nucleotide variant not provided [RCV000897209] Chr19:16925214 [GRCh38]
Chr19:17036024 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1794T>A (p.Pro598=) single nucleotide variant not provided [RCV000905874] Chr19:16976116 [GRCh38]
Chr19:17086926 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.3166T>G (p.Ser1056Ala) single nucleotide variant not provided [RCV000974448] Chr19:16928213 [GRCh38]
Chr19:17039023 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.216G>A (p.Pro72=) single nucleotide variant not provided [RCV000974485] Chr19:17022058 [GRCh38]
Chr19:17132868 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.412G>T (p.Val138Leu) single nucleotide variant not provided [RCV000923536] Chr19:17011613 [GRCh38]
Chr19:17122423 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4598G>A (p.Arg1533Gln) single nucleotide variant not provided [RCV000908682] Chr19:16902736 [GRCh38]
Chr19:17013546 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4858C>G (p.Arg1620Gly) single nucleotide variant not provided [RCV000881944] Chr19:16897985 [GRCh38]
Chr19:17008796 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.2826C>T (p.Ser942=) single nucleotide variant not provided [RCV000968391] Chr19:16938414 [GRCh38]
Chr19:17049224 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2529T>C (p.Val843=) single nucleotide variant not provided [RCV000907400] Chr19:16947207 [GRCh38]
Chr19:17058017 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.2385G>A (p.Glu795=) single nucleotide variant not provided [RCV000887615] Chr19:16952092 [GRCh38]
Chr19:17062902 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4849-5C>T single nucleotide variant not provided [RCV000887144] Chr19:16897999 [GRCh38]
Chr19:17008810 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.126C>T (p.Arg42=) single nucleotide variant not provided [RCV000911749] Chr19:17022148 [GRCh38]
Chr19:17132958 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.5528A>G (p.Gln1843Arg) single nucleotide variant not provided [RCV001637197] Chr19:16893238 [GRCh38]
Chr19:17004049 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.867+209_867+225del deletion not provided [RCV001621547] Chr19:17000189..17000205 [GRCh38]
Chr19:17110999..17111015 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.794T>C (p.Met265Thr) single nucleotide variant not provided [RCV001596678] Chr19:17000487 [GRCh38]
Chr19:17111297 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1908+39G>A single nucleotide variant not provided [RCV001720513] Chr19:16975963 [GRCh38]
Chr19:17086773 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.372C>T (p.Asp124=) single nucleotide variant not provided [RCV001720527] Chr19:17011653 [GRCh38]
Chr19:17122463 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1267-87dup duplication not provided [RCV001539530] Chr19:16989856..16989857 [GRCh38]
Chr19:17100666..17100667 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2070+42T>G single nucleotide variant not provided [RCV001541223] Chr19:16975055 [GRCh38]
Chr19:17085865 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4849-165dup duplication not provided [RCV001618956] Chr19:16898144..16898145 [GRCh38]
Chr19:17008955..17008956 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3144+89A>G single nucleotide variant not provided [RCV001687504] Chr19:16928853 [GRCh38]
Chr19:17039663 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.758+61G>A single nucleotide variant not provided [RCV001619195] Chr19:17002205 [GRCh38]
Chr19:17113015 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1586-108C>T single nucleotide variant not provided [RCV001720512] Chr19:16977648 [GRCh38]
Chr19:17088458 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2214-180_2214-174del deletion not provided [RCV001720515] Chr19:16958089..16958095 [GRCh38]
Chr19:17068899..17068905 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.673+198A>G single nucleotide variant not provided [RCV001659557] Chr19:17004075 [GRCh38]
Chr19:17114885 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3803C>T (p.Thr1268Ile) single nucleotide variant not provided [RCV001688793] Chr19:16914482 [GRCh38]
Chr19:17025292 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4028-66C>T single nucleotide variant not provided [RCV001687707] Chr19:16904618 [GRCh38]
Chr19:17015428 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.918G>A (p.Ala306=) single nucleotide variant not provided [RCV001639241] Chr19:16997288 [GRCh38]
Chr19:17108098 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2276+139C>T single nucleotide variant not provided [RCV001678261] Chr19:16957714 [GRCh38]
Chr19:17068524 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.93-200T>C single nucleotide variant not provided [RCV001597865] Chr19:17022381 [GRCh38]
Chr19:17133191 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.5426+200C>T single nucleotide variant not provided [RCV001688398] Chr19:16895976 [GRCh38]
Chr19:17006787 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.504+206del deletion not provided [RCV001698609] Chr19:17009097 [GRCh38]
Chr19:17119907 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3144+54C>T single nucleotide variant not provided [RCV001678228] Chr19:16928888 [GRCh38]
Chr19:17039698 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4470+176_4470+194del deletion not provided [RCV001594623] Chr19:16903367..16903385 [GRCh38]
Chr19:17014177..17014195 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2793+214C>T single nucleotide variant not provided [RCV001710065] Chr19:16945335 [GRCh38]
Chr19:17056145 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3466G>A (p.Val1156Ile) single nucleotide variant not provided [RCV001620344] Chr19:16925277 [GRCh38]
Chr19:17036087 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3911C>T (p.Ala1304Val) single nucleotide variant not provided [RCV001677481] Chr19:16907068 [GRCh38]
Chr19:17017878 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.994G>A (p.Ala332Thr) single nucleotide variant not provided [RCV001636323] Chr19:16997212 [GRCh38]
Chr19:17108022 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.687T>C (p.Phe229=) single nucleotide variant not provided [RCV001691921] Chr19:17002337 [GRCh38]
Chr19:17113147 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2846-196T>C single nucleotide variant not provided [RCV001651776] Chr19:16929436 [GRCh38]
Chr19:17040246 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4028-58G>C single nucleotide variant not provided [RCV001530883] Chr19:16904610 [GRCh38]
Chr19:17015420 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2805C>T (p.Val935=) single nucleotide variant not provided [RCV001671210] Chr19:16938435 [GRCh38]
Chr19:17049245 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2508+135A>G single nucleotide variant not provided [RCV001652050] Chr19:16951834 [GRCh38]
Chr19:17062644 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1637A>G (p.His546Arg) single nucleotide variant not provided [RCV001670679] Chr19:16977489 [GRCh38]
Chr19:17088299 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.751C>T (p.Arg251Trp) single nucleotide variant not provided [RCV001667296] Chr19:17002273 [GRCh38]
Chr19:17113083 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.867+180C>A single nucleotide variant not provided [RCV001681909] Chr19:17000234 [GRCh38]
Chr19:17111044 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1511C>T (p.Thr504Ile) single nucleotide variant not provided [RCV001538400] Chr19:16980571 [GRCh38]
Chr19:17091381 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.93-37G>T single nucleotide variant not provided [RCV001648416] Chr19:17022218 [GRCh38]
Chr19:17133028 [GRCh37]
Chr19:19p13.11
benign
Single allele single nucleotide variant not provided [RCV001652507] Chr19:17026979 [GRCh38]
Chr19:17137789 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3862-164G>C single nucleotide variant not provided [RCV001649470] Chr19:16907281 [GRCh38]
Chr19:17018091 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1095+96C>T single nucleotide variant not provided [RCV001679358] Chr19:16997015 [GRCh38]
Chr19:17107825 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.758+155G>A single nucleotide variant not provided [RCV001537108] Chr19:17002111 [GRCh38]
Chr19:17112921 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1758+164A>G single nucleotide variant not provided [RCV001725437] Chr19:16977204 [GRCh38]
Chr19:17088014 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1395+76T>A single nucleotide variant not provided [RCV001725438] Chr19:16989567 [GRCh38]
Chr19:17100377 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1113C>T (p.Pro371=) single nucleotide variant not provided [RCV001650658] Chr19:16993569 [GRCh38]
Chr19:17104379 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3144+158dup duplication not provided [RCV001647750] Chr19:16928769..16928770 [GRCh38]
Chr19:17039579..17039580 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.868-135T>C single nucleotide variant not provided [RCV001710132] Chr19:16997473 [GRCh38]
Chr19:17108283 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.268-63C>T single nucleotide variant not provided [RCV001615769] Chr19:17011820 [GRCh38]
Chr19:17122630 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1585+178G>A single nucleotide variant not provided [RCV001641829] Chr19:16980319 [GRCh38]
Chr19:17091129 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3629+165T>C single nucleotide variant not provided [RCV001641720] Chr19:16921740 [GRCh38]
Chr19:17032550 [GRCh37]
Chr19:19p13.11
benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
NM_015692.5(CPAMD8):c.5658A>G (p.Ter1886=) single nucleotide variant Anterior segment dysgenesis 8 [RCV001336308] Chr19:16893108 [GRCh38]
Chr19:17003919 [GRCh37]
Chr19:19p13.11
pathogenic
NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met) single nucleotide variant Anterior segment dysgenesis 8 [RCV001328921] Chr19:17022101 [GRCh38]
Chr19:17132911 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.1916A>G (p.Gln639Arg) single nucleotide variant Anterior segment dysgenesis 8 [RCV001328920] Chr19:16975251 [GRCh38]
Chr19:17086061 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.2532del (p.Lys845fs) deletion Anterior segment dysgenesis 8 [RCV001336307] Chr19:16947204 [GRCh38]
Chr19:17058014 [GRCh37]
Chr19:19p13.11
pathogenic
NM_015692.5(CPAMD8):c.2514C>A (p.Tyr838Ter) single nucleotide variant Anterior segment dysgenesis 8 [RCV001336306] Chr19:16947222 [GRCh38]
Chr19:17058032 [GRCh37]
Chr19:19p13.11
pathogenic
NM_015692.5(CPAMD8):c.1396-37G>A single nucleotide variant not provided [RCV001541852] Chr19:16980723 [GRCh38]
Chr19:17091533 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.*130A>C single nucleotide variant not provided [RCV001643355] Chr19:16892978 [GRCh38]
Chr19:17003789 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1585+181G>C single nucleotide variant not provided [RCV001612797] Chr19:16980316 [GRCh38]
Chr19:17091126 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1266+64G>A single nucleotide variant not provided [RCV001681885] Chr19:16993352 [GRCh38]
Chr19:17104162 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4989C>G (p.Thr1663=) single nucleotide variant not provided [RCV001669235] Chr19:16897767 [GRCh38]
Chr19:17008578 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3145-29C>T single nucleotide variant not provided [RCV001669679] Chr19:16928263 [GRCh38]
Chr19:17039073 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.92+71T>G single nucleotide variant not provided [RCV001670246] Chr19:17026480 [GRCh38]
Chr19:17137290 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1395+15A>T single nucleotide variant not provided [RCV001649314] Chr19:16989628 [GRCh38]
Chr19:17100438 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4252-75T>G single nucleotide variant not provided [RCV001685274] Chr19:16903932 [GRCh38]
Chr19:17014742 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.1267-150T>C single nucleotide variant not provided [RCV001670851] Chr19:16989921 [GRCh38]
Chr19:17100731 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4028-137C>T single nucleotide variant not provided [RCV001654329] Chr19:16904689 [GRCh38]
Chr19:17015499 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.922G>A (p.Val308Ile) single nucleotide variant not provided [RCV001708739] Chr19:16997284 [GRCh38]
Chr19:17108094 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.4252-51A>G single nucleotide variant not provided [RCV001648248] Chr19:16903908 [GRCh38]
Chr19:17014718 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2820C>G (p.Thr940=) single nucleotide variant not provided [RCV001654539] Chr19:16938420 [GRCh38]
Chr19:17049230 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.730G>A (p.Ala244Thr) single nucleotide variant not provided [RCV001761150] Chr19:17002294 [GRCh38]
Chr19:17113104 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.644_647del (p.Tyr215fs) deletion Anterior segment dysgenesis 8 [RCV001780868] Chr19:17004299..17004302 [GRCh38]
Chr19:17115109..17115112 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_015692.5(CPAMD8):c.2070+1G>A single nucleotide variant Anterior segment dysgenesis 8 [RCV001780869] Chr19:16975096 [GRCh38]
Chr19:17085906 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_015692.5(CPAMD8):c.2070+1G>C single nucleotide variant Anterior segment dysgenesis 8 [RCV001808101] Chr19:16975096 [GRCh38]
Chr19:17085906 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg) single nucleotide variant not provided [RCV001934321] Chr19:16893305 [GRCh38]
Chr19:17004116 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.-11G>A single nucleotide variant not provided [RCV001933175] Chr19:17026653 [GRCh38]
Chr19:17137463 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_015692.5(CPAMD8):c.1095+11G>A single nucleotide variant not provided [RCV002085421] Chr19:16997100 [GRCh38]
Chr19:17107910 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3371-13T>A single nucleotide variant not provided [RCV002194253] Chr19:16925385 [GRCh38]
Chr19:17036195 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.5349G>A (p.Gln1783=) single nucleotide variant not provided [RCV002097031] Chr19:16896253 [GRCh38]
Chr19:17007064 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.2382C>T (p.Ala794=) single nucleotide variant not provided [RCV002081406] Chr19:16952095 [GRCh38]
Chr19:17062905 [GRCh37]
Chr19:19p13.11
likely benign
NM_015692.5(CPAMD8):c.1740G>C (p.Glu580Asp) single nucleotide variant not provided [RCV002117856] Chr19:16977386 [GRCh38]
Chr19:17088196 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.521G>A (p.Arg174Gln) single nucleotide variant not provided [RCV002118056] Chr19:17008543 [GRCh38]
Chr19:17119353 [GRCh37]
Chr19:19p13.11
benign
NM_015692.5(CPAMD8):c.3861G>C (p.Glu1287Asp) single nucleotide variant not provided [RCV002265257] Chr19:16914424 [GRCh38]
Chr19:17025234 [GRCh37]
Chr19:19p13.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23228 AgrOrtholog
COSMIC CPAMD8 COSMIC
Ensembl Genes ENSG00000160111 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000291440.4 UniProtKB/TrEMBL
  ENSP00000402505 ENTREZGENE
  ENSP00000402505.3 UniProtKB/Swiss-Prot
  ENSP00000469163.2 UniProtKB/TrEMBL
  ENSP00000473216.2 UniProtKB/TrEMBL
  ENSP00000498697 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498697.2 UniProtKB/Swiss-Prot
  ENSP00000508109.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000291440 ENTREZGENE
  ENST00000291440.4 UniProtKB/TrEMBL
  ENST00000443236 ENTREZGENE
  ENST00000443236.7 UniProtKB/Swiss-Prot
  ENST00000594249 ENTREZGENE
  ENST00000598792.2 UniProtKB/TrEMBL
  ENST00000599287.2 UniProtKB/TrEMBL
  ENST00000651564 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000651564.2 UniProtKB/Swiss-Prot
  ENST00000682780.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160111 GTEx
HGNC ID HGNC:23228 ENTREZGENE
Human Proteome Map CPAMD8 Human Proteome Map
InterPro A-macroglobulin_rcpt-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-macroglobulin_rcpt-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglobulin_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macroglobln_a2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MacrogloblnA2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_FA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27151 UniProtKB/TrEMBL
NCBI Gene 27151 ENTREZGENE
OMIM 608841 OMIM
  617319 OMIM
Pfam A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_FA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TED_complement UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915057 PharmGKB
PROSITE ALPHA_2_MACROGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KAZAL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KAZAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0S9_HUMAN UniProtKB/TrEMBL
  A0A804HKX4_HUMAN UniProtKB/TrEMBL
  CPMD8_HUMAN UniProtKB/Swiss-Prot
  F8W7D1_HUMAN UniProtKB/TrEMBL
  M0QXH3_HUMAN UniProtKB/TrEMBL
  M0R3G7_HUMAN UniProtKB/TrEMBL
  Q6NVW5_HUMAN UniProtKB/TrEMBL
  Q8IZJ3 ENTREZGENE
  Q9ULD7 ENTREZGENE
UniProt Secondary Q8NC09 UniProtKB/Swiss-Prot
  Q9ULD7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 CPAMD8  C3 and PZP like alpha-2-macroglobulin domain containing 8  CPAMD8  C3 and PZP like, alpha-2-macroglobulin domain containing 8  Symbol and/or name change 5135510 APPROVED
2016-03-14 CPAMD8  C3 and PZP like, alpha-2-macroglobulin domain containing 8  CPAMD8  C3 and PZP-like, alpha-2-macroglobulin domain containing 8  Symbol and/or name change 5135510 APPROVED