TPSD1 (tryptase delta 1) - Rat Genome Database

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Gene: TPSD1 (tryptase delta 1) Homo sapiens
Analyze
No known orthologs.
Symbol: TPSD1
Name: tryptase delta 1
RGD ID: 1314139
HGNC Page HGNC:14118
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: delta-tryptase; hmMCP-3-like tryptase III; hmMCP-7-like; mast cell mMCP-7-like; mast cell protease 7-like; mast cell tryptase; MCP7-LIKE; MCP7L1; MGC95428; mMCP-7-like delta II tryptase; mMCP-7-like-1; mMCP-7-like-2; MMCP-7L; tryptase delta; tryptase-3
RGD Orthologs
Alliance Genes
More Info homologs ...
Related Pseudogenes: TPSP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,256,069 - 1,259,008 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,256,059 - 1,259,008 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,306,070 - 1,309,009 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,246,274 - 1,248,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,246,273 - 1,248,495NCBI
Celera161,520,603 - 1,522,824 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,235,258 - 1,237,478 (+)NCBIHuRef
CHM1_1161,305,483 - 1,307,704 (+)NCBICHM1_1
T2T-CHM13v2.0161,271,757 - 1,275,049 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process
proteolysis  (IBA,IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:9920877   PMID:11157797   PMID:11174199   PMID:12100045   PMID:12217407   PMID:12391231   PMID:12477932   PMID:16751005   PMID:17947681   PMID:18325577   PMID:18854315   PMID:19748655  
PMID:21873635   PMID:25807282   PMID:32461654   PMID:32487729   PMID:37511292  


Genomics

Variants

.
Variants in TPSD1
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3
pathogenic
NM_012217.2(TPSD1):c.200G>A (p.Gly67Glu) single nucleotide variant Malignant melanoma [RCV000070987] Chr16:1256633 [GRCh38]
Chr16:1306634 [GRCh37]
Chr16:1246635 [NCBI36]
Chr16:16p13.3
not provided
NM_012217.2(TPSD1):c.375C>T (p.Thr125=) single nucleotide variant Malignant melanoma [RCV000070988] Chr16:1256917 [GRCh38]
Chr16:1306918 [GRCh37]
Chr16:1246919 [NCBI36]
Chr16:16p13.3
not provided
NM_012217.2(TPSD1):c.397G>A (p.Glu133Lys) single nucleotide variant Malignant melanoma [RCV000070989] Chr16:1256939 [GRCh38]
Chr16:1306940 [GRCh37]
Chr16:1246941 [NCBI36]
Chr16:16p13.3
not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 copy number loss See cases [RCV000136187] Chr16:1257541..1436509 [GRCh38]
Chr16:1307542..1486510 [GRCh37]
Chr16:1247543..1426511 [NCBI36]
Chr16:16p13.3
benign
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:925267-1324901)x3 copy number gain See cases [RCV000142458] Chr16:925267..1324901 [GRCh38]
Chr16:975267..1374902 [GRCh37]
Chr16:915268..1314903 [NCBI36]
Chr16:16p13.3
likely pathogenic|uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1278591-1306880)x3 copy number gain See cases [RCV000447023] Chr16:1278591..1306880 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1278591-1306279)x3 copy number gain See cases [RCV000447716] Chr16:1278591..1306279 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:1279620-1306279)x3 copy number gain See cases [RCV000448751] Chr16:1279620..1306279 [GRCh37]
Chr16:16p13.3
benign|likely benign
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_012217.3(TPSD1):c.118G>T (p.Gly40Trp) single nucleotide variant Inborn genetic diseases [RCV003295018] Chr16:1256551 [GRCh38]
Chr16:1306552 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.421T>A (p.Ser141Thr) single nucleotide variant Inborn genetic diseases [RCV003253581] Chr16:1256963 [GRCh38]
Chr16:1306964 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
NM_012217.3(TPSD1):c.298C>A (p.Gln100Lys) single nucleotide variant Inborn genetic diseases [RCV003266452] Chr16:1256840 [GRCh38]
Chr16:1306841 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1307676-1349929)x1 copy number loss not provided [RCV000751504] Chr16:1307676..1349929 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3
pathogenic
NM_012217.3(TPSD1):c.394C>A (p.Leu132Met) single nucleotide variant Inborn genetic diseases [RCV003267895] Chr16:1256936 [GRCh38]
Chr16:1306937 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV000967399] Chr16:1258153 [GRCh38]
Chr16:1308154 [GRCh37]
Chr16:16p13.3
benign
NM_012217.3(TPSD1):c.685G>A (p.Gly229Ser) single nucleotide variant not provided [RCV000971949] Chr16:1258332 [GRCh38]
Chr16:1308333 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3
pathogenic
NM_012217.3(TPSD1):c.638G>A (p.Arg213His) single nucleotide variant Inborn genetic diseases [RCV003240549] Chr16:1258176 [GRCh38]
Chr16:1308177 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.508G>A (p.Val170Met) single nucleotide variant Inborn genetic diseases [RCV003252775] Chr16:1257050 [GRCh38]
Chr16:1307051 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 copy number gain not provided [RCV002473769] Chr16:1129080..2021055 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3 copy number gain not provided [RCV001259760] Chr16:1233996..1509217 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3
pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3
pathogenic
NM_012217.3(TPSD1):c.443C>A (p.Thr148Lys) single nucleotide variant Inborn genetic diseases [RCV002778737] Chr16:1256985 [GRCh38]
Chr16:1306986 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.52G>A (p.Val18Ile) single nucleotide variant Inborn genetic diseases [RCV002737603] Chr16:1256332 [GRCh38]
Chr16:1306333 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.648G>T (p.Met216Ile) single nucleotide variant Inborn genetic diseases [RCV002985184] Chr16:1258186 [GRCh38]
Chr16:1308187 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.604G>A (p.Gly202Ser) single nucleotide variant Inborn genetic diseases [RCV002641818] Chr16:1258142 [GRCh38]
Chr16:1308143 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.212T>A (p.Ile71Asn) single nucleotide variant Inborn genetic diseases [RCV002804211] Chr16:1256645 [GRCh38]
Chr16:1306646 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.107C>T (p.Thr36Met) single nucleotide variant Inborn genetic diseases [RCV002983720] Chr16:1256540 [GRCh38]
Chr16:1306541 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.542C>T (p.Pro181Leu) single nucleotide variant Inborn genetic diseases [RCV002788237] Chr16:1258080 [GRCh38]
Chr16:1308081 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.236C>T (p.Ala79Val) single nucleotide variant Inborn genetic diseases [RCV002877908] Chr16:1256669 [GRCh38]
Chr16:1306670 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.355C>G (p.Gln119Glu) single nucleotide variant Inborn genetic diseases [RCV002855496] Chr16:1256897 [GRCh38]
Chr16:1306898 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.175G>A (p.Gly59Ser) single nucleotide variant Inborn genetic diseases [RCV002674036] Chr16:1256608 [GRCh38]
Chr16:1306609 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.643G>T (p.Asp215Tyr) single nucleotide variant Inborn genetic diseases [RCV002961650] Chr16:1258181 [GRCh38]
Chr16:1308182 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.376G>A (p.Gly126Arg) single nucleotide variant Inborn genetic diseases [RCV002725189] Chr16:1256918 [GRCh38]
Chr16:1306919 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.29G>A (p.Ser10Asn) single nucleotide variant Inborn genetic diseases [RCV002679528] Chr16:1256309 [GRCh38]
Chr16:1306310 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.371A>G (p.Gln124Arg) single nucleotide variant Inborn genetic diseases [RCV003213531] Chr16:1256913 [GRCh38]
Chr16:1306914 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_012217.3(TPSD1):c.505G>A (p.Asp169Asn) single nucleotide variant Inborn genetic diseases [RCV003179201] Chr16:1257047 [GRCh38]
Chr16:1307048 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3
pathogenic
NM_012217.3(TPSD1):c.199G>C (p.Gly67Arg) single nucleotide variant Inborn genetic diseases [RCV003380962] Chr16:1256632 [GRCh38]
Chr16:1306633 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3
pathogenic
NM_012217.3(TPSD1):c.282G>C (p.Arg94Ser) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV003389423] Chr16:1256824 [GRCh38]
Chr16:1306825 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:898328-1349091)x3 copy number gain not provided [RCV003485079] Chr16:898328..1349091 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:648
Count of miRNA genes:423
Interacting mature miRNAs:458
Transcripts:ENST00000211076, ENST00000397534
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 909 50 2 31 119 871 471 94 33 194 348 31 345 425
Low 1225 1330 459 213 345 93 2424 913 1687 110 820 523 123 706 1583
Below cutoff 191 1276 944 261 668 252 910 708 1676 132 251 466 11 1 147 720 2

Sequence


RefSeq Acc Id: ENST00000211076   ⟹   ENSP00000211076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,256,069 - 1,259,008 (+)Ensembl
RefSeq Acc Id: ENST00000397534   ⟹   ENSP00000380668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,256,059 - 1,258,531 (+)Ensembl
RefSeq Acc Id: ENST00000711393   ⟹   ENSP00000518724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,256,069 - 1,259,008 (+)Ensembl
RefSeq Acc Id: NM_012217   ⟹   NP_036349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,256,069 - 1,259,008 (+)NCBI
GRCh37161,306,273 - 1,308,494 (+)RGD
Build 36161,246,274 - 1,248,495 (+)NCBI Archive
Celera161,520,603 - 1,522,824 (+)RGD
HuRef161,235,258 - 1,237,478 (+)ENTREZGENE
CHM1_1161,305,483 - 1,307,704 (+)NCBI
T2T-CHM13v2.0161,271,757 - 1,275,049 (+)NCBI
Sequence:
RefSeq Acc Id: NP_036349   ⟸   NM_012217
- Peptide Label: precursor
- UniProtKB: Q9H2Y6 (UniProtKB/Swiss-Prot),   Q96RZ5 (UniProtKB/Swiss-Prot),   Q96L36 (UniProtKB/Swiss-Prot),   Q8TDI6 (UniProtKB/Swiss-Prot),   O95824 (UniProtKB/Swiss-Prot),   Q9UQI8 (UniProtKB/Swiss-Prot),   Q9BZJ3 (UniProtKB/Swiss-Prot),   A0A0C4DFZ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000211076   ⟸   ENST00000211076
RefSeq Acc Id: ENSP00000380668   ⟸   ENST00000397534
RefSeq Acc Id: ENSP00000518724   ⟸   ENST00000711393
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZJ3-F1-model_v2 AlphaFold Q9BZJ3 1-242 view protein structure

Promoters
RGD ID:7230879
Promoter ID:EPDNEW_H21185
Type:initiation region
Name:TPSD1_2
Description:tryptase delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21186  EPDNEW_H21187  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,253,770 - 1,253,830EPDNEW
RGD ID:7230881
Promoter ID:EPDNEW_H21186
Type:initiation region
Name:TPSD1_1
Description:tryptase delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21185  EPDNEW_H21187  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,256,069 - 1,256,129EPDNEW
RGD ID:7230883
Promoter ID:EPDNEW_H21187
Type:initiation region
Name:TPSD1_3
Description:tryptase delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21185  EPDNEW_H21186  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,256,270 - 1,256,330EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14118 AgrOrtholog
COSMIC TPSD1 COSMIC
Ensembl Genes ENSG00000095917 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000211076 ENTREZGENE
  ENST00000211076.5 UniProtKB/Swiss-Prot
  ENST00000397534.6 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095917 GTEx
HGNC ID HGNC:14118 ENTREZGENE
Human Proteome Map TPSD1 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23430 UniProtKB/Swiss-Prot
NCBI Gene 23430 ENTREZGENE
OMIM 609272 OMIM
PANTHER TRANSMEMBRANE PROTEASE SERINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPTASE DELTA 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37845 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFZ7 ENTREZGENE, UniProtKB/TrEMBL
  O95824 ENTREZGENE
  Q8TDI6 ENTREZGENE
  Q96L36 ENTREZGENE
  Q96RZ5 ENTREZGENE
  Q9BZJ3 ENTREZGENE
  Q9H2Y6 ENTREZGENE
  Q9UQI8 ENTREZGENE
  TRYD_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O95824 UniProtKB/Swiss-Prot
  Q8TDI6 UniProtKB/Swiss-Prot
  Q96L36 UniProtKB/Swiss-Prot
  Q96RZ5 UniProtKB/Swiss-Prot
  Q9H2Y6 UniProtKB/Swiss-Prot
  Q9UQI8 UniProtKB/Swiss-Prot