SERPINA10 (serpin family A member 10) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SERPINA10 (serpin family A member 10) Homo sapiens
Analyze
Symbol: SERPINA10
Name: serpin family A member 10
RGD ID: 1353693
HGNC Page HGNC:15996
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in blood coagulation and liver regeneration. Located in extracellular exosome. Implicated in thrombophilia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protein Z-dependent protease inhibitor; Protein-Z dependent proteinase inhibitor; PZ-dependent protease inhibitor; PZI; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10; serpin A10; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10; ZPI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
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
GRCh381494,280,460 - 94,293,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1494,280,460 - 94,293,268 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,746,797 - 94,759,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,819,403 - 93,829,349 (-)NCBINCBI36Build 36hg18NCBI36
Build 341493,819,404 - 93,829,114NCBI
Celera1474,803,423 - 74,813,369 (-)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1474,929,448 - 74,939,406 (-)NCBIHuRef
CHM1_11494,687,457 - 94,697,415 (-)NCBICHM1_1
T2T-CHM13v2.01488,507,743 - 88,520,553 (-)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
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid A  (ISO)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (EXP)
diclofenac  (ISO)
endosulfan  (ISO)
fenthion  (ISO)
fipronil  (ISO)
flutamide  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
N-Nitrosopyrrolidine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
quartz  (ISO)
quercetin  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Protein Z, an anticoagulant protein with expanding role in reproductive biology. Almawi WY, etal., Reproduction. 2013 Jun 27;146(2):R73-80. doi: 10.1530/REP-13-0072. Print 2013 Aug.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia. Water N, etal., Br J Haematol. 2004 Oct;127(2):190-4.
7. Prothrombotic phenotype of protein Z deficiency. Yin ZF, etal., Proc Natl Acad Sci U S A. 2000 Jun 6;97(12):6734-8.
Additional References at PubMed
PMID:9689066   PMID:10460162   PMID:11049983   PMID:11751269   PMID:12477932   PMID:12975309   PMID:15014966   PMID:15489334   PMID:16079143   PMID:16093243   PMID:16335952   PMID:16527896  
PMID:17582153   PMID:18710385   PMID:18768472   PMID:19172319   PMID:19913121   PMID:20024489   PMID:20427285   PMID:20458435   PMID:20628086   PMID:21220417   PMID:21873635   PMID:21975032  
PMID:21988832   PMID:22039093   PMID:22274138   PMID:22399118   PMID:22424030   PMID:22540147   PMID:22786881   PMID:23269381   PMID:23530052   PMID:23533145   PMID:24158387   PMID:24172014  
PMID:24315319   PMID:24960590   PMID:25713144   PMID:26982741   PMID:28514442   PMID:28717005   PMID:29302946   PMID:30918026   PMID:33427552   PMID:33961781   PMID:35551912  


Genomics

Comparative Map Data
SERPINA10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381494,280,460 - 94,293,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1494,280,460 - 94,293,268 (-)EnsemblGRCh38hg38GRCh38
GRCh371494,746,797 - 94,759,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361493,819,403 - 93,829,349 (-)NCBINCBI36Build 36hg18NCBI36
Build 341493,819,404 - 93,829,114NCBI
Celera1474,803,423 - 74,813,369 (-)NCBICelera
Cytogenetic Map14q32.13NCBI
HuRef1474,929,448 - 74,939,406 (-)NCBIHuRef
CHM1_11494,687,457 - 94,697,415 (-)NCBICHM1_1
T2T-CHM13v2.01488,507,743 - 88,520,553 (-)NCBIT2T-CHM13v2.0
Serpina10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912103,582,934 - 103,597,681 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12103,581,045 - 103,597,703 (-)EnsemblGRCm39 Ensembl
GRCm3812103,616,675 - 103,631,490 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12103,614,786 - 103,631,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712104,854,885 - 104,869,615 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612104,017,725 - 104,032,455 (-)NCBIMGSCv36mm8
Celera12104,832,950 - 104,847,686 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1252.97NCBI
Serpina10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86128,520,894 - 128,529,332 (-)NCBIGRCr8
mRatBN7.26122,756,106 - 122,764,544 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6122,756,108 - 122,764,544 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6122,896,632 - 122,905,075 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06123,191,904 - 123,200,347 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06122,528,769 - 122,537,212 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06127,500,014 - 127,508,470 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6127,500,016 - 127,508,452 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl6129,004,240 - 129,010,271 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06136,718,786 - 136,727,224 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46127,887,684 - 127,896,122 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16127,891,432 - 127,899,869 (-)NCBI
Celera6120,236,372 - 120,244,810 (-)NCBICelera
Cytogenetic Map6q32NCBI
Serpina10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543816,335,544 - 16,345,094 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543816,335,201 - 16,345,093 (-)NCBIChiLan1.0ChiLan1.0
SERPINA10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21595,441,471 - 95,448,088 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11494,656,249 - 94,664,593 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01474,914,680 - 74,927,325 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11494,248,362 - 94,258,301 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1494,248,362 - 94,257,835 (-)Ensemblpanpan1.1panPan2
Serpina10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864011,337,053 - 11,345,124 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367332,121,875 - 2,129,988 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINA10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12472,059,523 - 72,069,989 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2472,058,780 - 72,069,085 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605359,292,823 - 59,299,933 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Serpina10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473410,620,620 - 10,631,306 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473410,619,044 - 10,630,963 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SERPINA10
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001100607.3(SERPINA10):c.972G>A (p.Trp324Ter) single nucleotide variant Venous thrombosis, susceptibility to [RCV000005413] Chr14:94288306 [GRCh38]
Chr14:94754643 [GRCh37]
Chr14:14q32.13		 risk factor|uncertain significance
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 copy number loss See cases [RCV000051551] Chr14:90255156..95274696 [GRCh38]
Chr14:90721500..95741033 [GRCh37]
Chr14:89791253..94810786 [NCBI36]
Chr14:14q32.11-32.13		 pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
NM_001100607.2(SERPINA10):c.850C>T (p.Arg284Cys) single nucleotide variant Malignant melanoma [RCV000070670] Chr14:94288428 [GRCh38]
Chr14:94754765 [GRCh37]
Chr14:93824518 [NCBI36]
Chr14:14q32.13		 not provided
NM_001100607.2(SERPINA10):c.498C>T (p.Ala166=) single nucleotide variant Malignant melanoma [RCV000070671] Chr14:94290096 [GRCh38]
Chr14:94756433 [GRCh37]
Chr14:93826186 [NCBI36]
Chr14:14q32.13		 not provided
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
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 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 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
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 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 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
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 copy number gain See cases [RCV000511246] Chr14:93498930..96059698 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.1030C>A (p.Gln344Lys) single nucleotide variant Inborn genetic diseases [RCV003240828] Chr14:94286221 [GRCh38]
Chr14:94752558 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
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
NM_001100607.3(SERPINA10):c.1253G>A (p.Arg418Gln) single nucleotide variant Inborn genetic diseases [RCV003267435] Chr14:94284047 [GRCh38]
Chr14:94750384 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2		 pathogenic
NM_001100607.3(SERPINA10):c.262C>T (p.Arg88Ter) single nucleotide variant LAMB2-related infantile-onset nephrotic syndrome [RCV001258290] Chr14:94290332 [GRCh38]
Chr14:94756669 [GRCh37]
Chr14:14q32.13		 likely benign
GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710) copy number gain not specified [RCV002052454] Chr14:94442454..95185710 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NC_000014.8:g.(?_93687728)_(95560403_?)del deletion DICER1-related tumor predisposition [RCV002044285] Chr14:93687728..95560403 [GRCh37]
Chr14:14q32.12-32.13		 likely pathogenic
GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218) copy number gain not specified [RCV002052453] Chr14:94400492..96192218 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) copy number loss not specified [RCV002053117] Chr14:88345625..94773741 [GRCh37]
Chr14:14q31.3-32.13		 pathogenic
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2		 uncertain significance
NC_000014.8:g.(?_90429459)_(94856914_?)dup duplication Achondrogenesis, type IA [RCV003113413] Chr14:90429459..94856914 [GRCh37]
Chr14:14q32.11-32.13		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2		 likely pathogenic
NM_001100607.3(SERPINA10):c.1230G>A (p.Met410Ile) single nucleotide variant Inborn genetic diseases [RCV002902131] Chr14:94284070 [GRCh38]
Chr14:94750407 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q32.12-32.13(chr14:94637559-95522984)x3 copy number gain not provided [RCV002472422] Chr14:94637559..95522984 [GRCh37]
Chr14:14q32.12-32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.334T>G (p.Leu112Val) single nucleotide variant Inborn genetic diseases [RCV002683445] Chr14:94290260 [GRCh38]
Chr14:94756597 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.1289G>C (p.Gly430Ala) single nucleotide variant Inborn genetic diseases [RCV002687354] Chr14:94284011 [GRCh38]
Chr14:94750348 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.520G>A (p.Val174Ile) single nucleotide variant Inborn genetic diseases [RCV002968280] Chr14:94290074 [GRCh38]
Chr14:94756411 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.274A>T (p.Met92Leu) single nucleotide variant Inborn genetic diseases [RCV002888635] Chr14:94290320 [GRCh38]
Chr14:94756657 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.148G>C (p.Glu50Gln) single nucleotide variant Inborn genetic diseases [RCV002849183] Chr14:94290446 [GRCh38]
Chr14:94756783 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.1327C>T (p.Leu443Phe) single nucleotide variant Inborn genetic diseases [RCV002783959] Chr14:94283973 [GRCh38]
Chr14:94750310 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.970T>C (p.Trp324Arg) single nucleotide variant Inborn genetic diseases [RCV002738438] Chr14:94288308 [GRCh38]
Chr14:94754645 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.263G>A (p.Arg88Gln) single nucleotide variant Inborn genetic diseases [RCV002660323] Chr14:94290331 [GRCh38]
Chr14:94756668 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.1156A>G (p.Thr386Ala) single nucleotide variant Inborn genetic diseases [RCV002830568] Chr14:94284144 [GRCh38]
Chr14:94750481 [GRCh37]
Chr14:14q32.13		 likely benign
NM_001100607.3(SERPINA10):c.31G>A (p.Val11Ile) single nucleotide variant Inborn genetic diseases [RCV002897588] Chr14:94290563 [GRCh38]
Chr14:94756900 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.640C>T (p.Arg214Trp) single nucleotide variant Inborn genetic diseases [RCV003010654] Chr14:94289954 [GRCh38]
Chr14:94756291 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.890C>T (p.Thr297Ile) single nucleotide variant Inborn genetic diseases [RCV003179763] Chr14:94288388 [GRCh38]
Chr14:94754725 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.289A>C (p.Asn97His) single nucleotide variant Inborn genetic diseases [RCV003185378] Chr14:94290305 [GRCh38]
Chr14:94756642 [GRCh37]
Chr14:14q32.13		 uncertain significance
NM_001100607.3(SERPINA10):c.184G>C (p.Glu62Gln) single nucleotide variant Inborn genetic diseases [RCV003285723] Chr14:94290410 [GRCh38]
Chr14:94756747 [GRCh37]
Chr14:14q32.13		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:956
Count of miRNA genes:208
Interacting mature miRNAs:225
Transcripts:ENST00000261994, ENST00000393096, ENST00000554173, ENST00000554723
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
D14S1218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371494,749,669 - 94,749,994UniSTSGRCh37
Build 361493,819,422 - 93,819,747RGDNCBI36
Celera1474,803,442 - 74,803,767RGD
Cytogenetic Map14q32.13UniSTS
GeneMap99-GB4 RH Map14250.64UniSTS
Whitehead-RH Map14325.4UniSTS
Whitehead-YAC Contig Map14 UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 5 1 428 428 1 428 1 3
Low 72 27 142 16 72 16 158 8 238 24 500 184 5 10 17
Below cutoff 1950 1899 1022 170 1093 19 3060 1312 3255 266 822 1265 159 870 1859 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001100607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF181467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI174900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF621762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261994   ⟹   ENSP00000261994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1494,280,460 - 94,293,268 (-)Ensembl
RefSeq Acc Id: ENST00000393096   ⟹   ENSP00000376809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1494,283,315 - 94,293,024 (-)Ensembl
RefSeq Acc Id: ENST00000554173   ⟹   ENSP00000450971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1494,283,355 - 94,290,648 (-)Ensembl
RefSeq Acc Id: ENST00000554723   ⟹   ENSP00000450896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1494,283,313 - 94,293,097 (-)Ensembl
RefSeq Acc Id: NM_001100607   ⟹   NP_001094077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,280,460 - 94,293,268 (-)NCBI
GRCh371494,749,648 - 94,759,608 (-)NCBI
Build 361493,819,403 - 93,829,349 (-)NCBI Archive
HuRef1474,929,448 - 74,939,406 (-)NCBI
CHM1_11494,687,457 - 94,697,415 (-)NCBI
T2T-CHM13v2.01488,507,743 - 88,520,553 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016186   ⟹   NP_057270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,280,460 - 94,293,056 (-)NCBI
GRCh371494,749,648 - 94,759,608 (-)NCBI
Build 361493,819,403 - 93,829,114 (-)NCBI Archive
HuRef1474,929,448 - 74,939,406 (-)NCBI
CHM1_11494,687,457 - 94,697,168 (-)NCBI
T2T-CHM13v2.01488,507,743 - 88,520,341 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005267733   ⟹   XP_005267790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,280,460 - 94,293,268 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021353   ⟹   XP_016876842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,280,460 - 94,293,268 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054376169   ⟹   XP_054232144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,507,743 - 88,520,553 (-)NCBI
RefSeq Acc Id: XM_054376170   ⟹   XP_054232145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01488,507,743 - 88,520,467 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001094077   ⟸   NM_001100607
- Peptide Label: precursor
- UniProtKB: Q6UWX9 (UniProtKB/Swiss-Prot),   A5Z2A5 (UniProtKB/Swiss-Prot),   Q86U20 (UniProtKB/Swiss-Prot),   Q9UK55 (UniProtKB/Swiss-Prot),   B2RBZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057270   ⟸   NM_016186
- Peptide Label: precursor
- UniProtKB: Q6UWX9 (UniProtKB/Swiss-Prot),   A5Z2A5 (UniProtKB/Swiss-Prot),   Q86U20 (UniProtKB/Swiss-Prot),   Q9UK55 (UniProtKB/Swiss-Prot),   B2RBZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267790   ⟸   XM_005267733
- Peptide Label: isoform X2
- UniProtKB: Q6UWX9 (UniProtKB/Swiss-Prot),   A5Z2A5 (UniProtKB/Swiss-Prot),   Q86U20 (UniProtKB/Swiss-Prot),   Q9UK55 (UniProtKB/Swiss-Prot),   B2RBZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876842   ⟸   XM_017021353
- Peptide Label: isoform X1
- UniProtKB: G3V2W1 (UniProtKB/TrEMBL),   B2RBZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000261994   ⟸   ENST00000261994
RefSeq Acc Id: ENSP00000376809   ⟸   ENST00000393096
RefSeq Acc Id: ENSP00000450896   ⟸   ENST00000554723
RefSeq Acc Id: ENSP00000450971   ⟸   ENST00000554173
RefSeq Acc Id: XP_054232144   ⟸   XM_054376169
- Peptide Label: isoform X1
- UniProtKB: B2RBZ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232145   ⟸   XM_054376170
- Peptide Label: isoform X2
- UniProtKB: B2RBZ5 (UniProtKB/TrEMBL)
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK55-F1-model_v2 AlphaFold Q9UK55 1-444 view protein structure

Promoters
RGD ID:7228499
Promoter ID:EPDNEW_H19995
Type:initiation region
Name:SERPINA10_3
Description:serpin family A member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19996  EPDNEW_H19997  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,290,578 - 94,290,638EPDNEW
RGD ID:7228501
Promoter ID:EPDNEW_H19996
Type:initiation region
Name:SERPINA10_2
Description:serpin family A member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19995  EPDNEW_H19997  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,293,056 - 94,293,116EPDNEW
RGD ID:7228503
Promoter ID:EPDNEW_H19997
Type:initiation region
Name:SERPINA10_1
Description:serpin family A member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19995  EPDNEW_H19996  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381494,293,226 - 94,293,286EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15996 AgrOrtholog
COSMIC SERPINA10 COSMIC
Ensembl Genes ENSG00000140093 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261994 ENTREZGENE
  ENST00000261994.9 UniProtKB/Swiss-Prot
  ENST00000393096 ENTREZGENE
  ENST00000393096.5 UniProtKB/Swiss-Prot
  ENST00000554173.1 UniProtKB/Swiss-Prot
  ENST00000554723 ENTREZGENE
  ENST00000554723.5 UniProtKB/TrEMBL
  ENST00000614630.4 UniProtKB/Swiss-Prot
  ENST00000616057.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140093 GTEx
  ENSG00000278767 GTEx
HGNC ID HGNC:15996 ENTREZGENE
Human Proteome Map SERPINA10 Human Proteome Map
InterPro Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERPINA10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51156 UniProtKB/Swiss-Prot
NCBI Gene 51156 ENTREZGENE
OMIM 605271 OMIM
PANTHER PROTEIN Z-DEPENDENT PROTEASE INHIBITOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38078 PharmGKB
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5Z2A5 ENTREZGENE
  B2RBZ5 ENTREZGENE, UniProtKB/TrEMBL
  G3V2W1 ENTREZGENE, UniProtKB/TrEMBL
  Q6UWX9 ENTREZGENE
  Q86U20 ENTREZGENE
  Q9UK55 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5Z2A5 UniProtKB/Swiss-Prot
  Q6UWX9 UniProtKB/Swiss-Prot
  Q86U20 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINA10  serpin family A member 10    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10  Symbol and/or name change 5135510 APPROVED