PRSS58 (serine protease 58) - Rat Genome Database

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Gene: PRSS58 (serine protease 58) Homo sapiens
Analyze
Symbol: PRSS58
Name: serine protease 58
RGD ID: 1606966
HGNC Page HGNC:39125
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 secretory granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ16649; MGC35022; protease, serine 58; protease, serine, 58; PRSS1; TRY1; trypsin X3; trypsin-X3; TRYX3; UNQ2540
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PRSS59P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,252,143 - 142,258,058 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,252,143 - 142,258,058 (-)EnsemblGRCh38hg38GRCh38
GRCh377141,951,963 - 141,957,878 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367141,598,441 - 141,604,347 (-)NCBINCBI36Build 36hg18NCBI36
Celera7136,729,455 - 136,735,370 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,246,697 - 136,252,617 (-)NCBIHuRef
CHM1_17141,886,110 - 141,892,030 (-)NCBICHM1_1
T2T-CHM13v2.07143,567,197 - 143,573,112 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27141,290,166 - 141,296,085 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process
proteolysis  (IEA)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8650574   PMID:12477932   PMID:12690205   PMID:12975309   PMID:14702039   PMID:16751668   PMID:21873635   PMID:34638806  


Genomics

Comparative Map Data
PRSS58
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,252,143 - 142,258,058 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,252,143 - 142,258,058 (-)EnsemblGRCh38hg38GRCh38
GRCh377141,951,963 - 141,957,878 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367141,598,441 - 141,604,347 (-)NCBINCBI36Build 36hg18NCBI36
Celera7136,729,455 - 136,735,370 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,246,697 - 136,252,617 (-)NCBIHuRef
CHM1_17141,886,110 - 141,892,030 (-)NCBICHM1_1
T2T-CHM13v2.07143,567,197 - 143,573,112 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27141,290,166 - 141,296,085 (-)NCBI
Prss58
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39640,872,196 - 40,877,321 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl640,872,204 - 40,877,321 (-)EnsemblGRCm39 Ensembl
GRCm38640,895,262 - 40,900,387 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl640,895,270 - 40,900,387 (-)EnsemblGRCm38mm10GRCm38
MGSCv37640,845,261 - 40,850,386 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36640,824,869 - 40,829,994 (-)NCBIMGSCv36mm8
Celera640,881,514 - 40,886,641 (-)NCBICelera
Cytogenetic Map6B1NCBI
cM Map618.94NCBI
Prss58
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8470,719,326 - 70,731,158 (-)NCBIGRCr8
mRatBN7.2469,752,646 - 69,757,306 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl469,752,573 - 69,756,962 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx474,676,103 - 74,680,032 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0470,597,244 - 70,601,173 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0469,010,706 - 69,014,647 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0469,145,435 - 69,152,111 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl469,145,397 - 69,149,520 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04133,935,374 - 133,939,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4468,534,119 - 68,538,075 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1468,810,248 - 68,814,205 (-)NCBI
Celera464,743,249 - 64,747,205 (-)NCBICelera
Cytogenetic Map4q23NCBI
Prss58
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554941,277,297 - 1,283,748 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554941,277,333 - 1,283,610 (+)NCBIChiLan1.0ChiLan1.0
PRSS58
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26179,035,095 - 179,042,947 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1731,045,350 - 31,053,202 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07134,179,697 - 134,185,609 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17146,649,838 - 146,655,755 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7146,649,838 - 146,655,728 (-)Ensemblpanpan1.1panPan2
LOC475522
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1167,001,061 - 7,005,198 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl167,001,408 - 7,005,186 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha167,859,857 - 7,863,994 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0166,922,105 - 6,926,242 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,922,452 - 6,926,230 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,875,606 - 6,879,743 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0166,716,965 - 6,721,091 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,785,611 - 6,789,748 (+)NCBIUU_Cfam_GSD_1.0
Prss58
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511813,166,133 - 13,170,467 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936971193,268 - 195,843 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936971193,268 - 195,843 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRSS58
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl187,715,879 - 7,723,937 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1187,715,969 - 7,725,465 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,984,174 - 7,992,282 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRSS58
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121110,988,537 - 110,994,720 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21110,988,631 - 110,994,088 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660727,694,375 - 7,702,860 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prss58
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248219,612,653 - 9,618,461 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRSS58
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_001001317.4(PRSS58):c.185T>C (p.Leu62Pro) single nucleotide variant Malignant melanoma [RCV000061574] Chr7:142255306 [GRCh38]
Chr7:141955126 [GRCh37]
Chr7:141601603 [NCBI36]
Chr7:7q34
not provided
NM_001001317.4(PRSS58):c.-104T>A single nucleotide variant Lung cancer [RCV000105692] Chr7:142258053 [GRCh38]
Chr7:141957873 [GRCh37]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34(chr7:142237788-142779344)x3 copy number gain See cases [RCV000137716] Chr7:142237788..142779344 [GRCh38]
Chr7:141584064..142187156 [NCBI36]
Chr7:7q34
likely benign
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q34(chr7:141937588-142486548)x3 copy number gain See cases [RCV000143759] Chr7:141937588..142486548 [GRCh37]
Chr7:141584062..142186550 [NCBI36]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q34(chr7:141937588-142716850)x3 copy number gain Newborn respiratory distress syndrome [RCV002284310] Chr7:141937588..142716850 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_001001317.5(PRSS58):c.16C>G (p.Leu6Val) single nucleotide variant not specified [RCV004281908] Chr7:142257692 [GRCh38]
Chr7:141957512 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.326C>G (p.Thr109Arg) single nucleotide variant not specified [RCV004320868] Chr7:142255165 [GRCh38]
Chr7:141954985 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q34(chr7:141854658-141963253)x1 copy number loss not provided [RCV000682784] Chr7:141854658..141963253 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34(chr7:141932561-142486548)x3 copy number gain not provided [RCV000849721] Chr7:141932561..142486548 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34(chr7:141932561-142487154)x3 copy number gain not provided [RCV000848854] Chr7:141932561..142487154 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3
likely pathogenic
NC_000007.13:g.141443350_142460881dup duplication Hereditary pancreatitis [RCV001250209] Chr7:141443350..142460881 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001001317.5(PRSS58):c.379A>C (p.Ile127Leu) single nucleotide variant not specified [RCV004198548] Chr7:142255112 [GRCh38]
Chr7:141954932 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.501T>G (p.Asp167Glu) single nucleotide variant not specified [RCV004183918] Chr7:142252547 [GRCh38]
Chr7:141952367 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.190G>A (p.Val64Met) single nucleotide variant not specified [RCV004081046] Chr7:142255301 [GRCh38]
Chr7:141955121 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.79A>C (p.Thr27Pro) single nucleotide variant not specified [RCV004136327] Chr7:142255635 [GRCh38]
Chr7:141955455 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004095113] Chr7:142252552 [GRCh38]
Chr7:141952372 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.143C>T (p.Pro48Leu) single nucleotide variant not specified [RCV004102358] Chr7:142255571 [GRCh38]
Chr7:141955391 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.499G>C (p.Asp167His) single nucleotide variant not specified [RCV004197560] Chr7:142252549 [GRCh38]
Chr7:141952369 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.302A>T (p.Asp101Val) single nucleotide variant not specified [RCV004240490] Chr7:142255189 [GRCh38]
Chr7:141955009 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.482C>A (p.Ser161Tyr) single nucleotide variant not specified [RCV004074791] Chr7:142252566 [GRCh38]
Chr7:141952386 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.448G>A (p.Asp150Asn) single nucleotide variant not specified [RCV004198398] Chr7:142252600 [GRCh38]
Chr7:141952420 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.640G>A (p.Gly214Arg) single nucleotide variant not specified [RCV004167374] Chr7:142252307 [GRCh38]
Chr7:141952127 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.86C>T (p.Pro29Leu) single nucleotide variant not specified [RCV004163072] Chr7:142255628 [GRCh38]
Chr7:141955448 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.694C>A (p.Pro232Thr) single nucleotide variant not specified [RCV004081088] Chr7:142252253 [GRCh38]
Chr7:141952073 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.565C>A (p.Gln189Lys) single nucleotide variant not specified [RCV004257310] Chr7:142252483 [GRCh38]
Chr7:141952303 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.410C>T (p.Thr137Ile) single nucleotide variant not specified [RCV004269998] Chr7:142255081 [GRCh38]
Chr7:141954901 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.271C>T (p.Pro91Ser) single nucleotide variant not specified [RCV004301958] Chr7:142255220 [GRCh38]
Chr7:141955040 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1
pathogenic
NM_001001317.5(PRSS58):c.56A>C (p.Asn19Thr) single nucleotide variant not specified [RCV004335066] Chr7:142255658 [GRCh38]
Chr7:141955478 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_001001317.5(PRSS58):c.590C>G (p.Ala197Gly) single nucleotide variant not specified [RCV004510781] Chr7:142252357 [GRCh38]
Chr7:141952177 [GRCh37]
Chr7:7q34
uncertain significance
NM_001001317.5(PRSS58):c.718A>C (p.Asn240His) single nucleotide variant not specified [RCV004510783] Chr7:142252229 [GRCh38]
Chr7:141952049 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_001001317.5(PRSS58):c.188G>A (p.Arg63Gln) single nucleotide variant not specified [RCV004510779] Chr7:142255303 [GRCh38]
Chr7:141955123 [GRCh37]
Chr7:7q34
likely benign
NM_001001317.5(PRSS58):c.646G>A (p.Val216Ile) single nucleotide variant not specified [RCV004510782] Chr7:142252301 [GRCh38]
Chr7:141952121 [GRCh37]
Chr7:7q34
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:338
Count of miRNA genes:174
Interacting mature miRNAs:176
Transcripts:ENST00000547058, ENST00000552471
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.

Markers in Region
RH92570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377141,952,098 - 141,952,340UniSTSGRCh37
Build 367141,598,576 - 141,598,818RGDNCBI36
Celera7136,729,590 - 136,729,832RGD
Cytogenetic Map7q34UniSTS
HuRef7136,246,837 - 136,247,079UniSTS
CRA_TCAGchr7v27141,290,306 - 141,290,548UniSTS


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
High
Medium 327
Low 4 23 4 1 25 1 10 4 5 49 5 4 4
Below cutoff 347 510 162 95 573 33 501 144 599 27 172 134 62 211 290

Sequence


RefSeq Acc Id: ENST00000547058   ⟹   ENSP00000447588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,252,143 - 142,258,058 (-)Ensembl
RefSeq Acc Id: ENST00000552471   ⟹   ENSP00000446916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,252,144 - 142,258,027 (-)Ensembl
RefSeq Acc Id: NM_001001317   ⟹   NP_001001317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,252,143 - 142,258,058 (-)NCBI
GRCh377141,951,958 - 141,957,878 (-)ENTREZGENE
Build 367141,598,441 - 141,604,347 (-)NCBI Archive
Celera7136,729,455 - 136,735,370 (-)RGD
HuRef7136,246,697 - 136,252,617 (-)ENTREZGENE
CHM1_17141,886,110 - 141,892,030 (-)NCBI
T2T-CHM13v2.07143,567,197 - 143,573,112 (-)NCBI
CRA_TCAGchr7v27141,290,166 - 141,296,085 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001001317   ⟸   NM_001001317
- Peptide Label: precursor
- UniProtKB: B3KVJ6 (UniProtKB/Swiss-Prot),   D3DXD2 (UniProtKB/Swiss-Prot),   Q8IYP2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000447588   ⟸   ENST00000547058
RefSeq Acc Id: ENSP00000446916   ⟸   ENST00000552471
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYP2-F1-model_v2 AlphaFold Q8IYP2 1-241 view protein structure

Promoters
RGD ID:7212131
Promoter ID:EPDNEW_H11812
Type:initiation region
Name:PRSS58_1
Description:protease, serine 58
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,258,058 - 142,258,118EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:39125 AgrOrtholog
COSMIC PRSS58 COSMIC
Ensembl Genes ENSG00000258223 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276785 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000547058 ENTREZGENE
  ENST00000547058.6 UniProtKB/Swiss-Prot
  ENST00000552471.1 UniProtKB/Swiss-Prot
  ENST00000621886.4 UniProtKB/Swiss-Prot
  ENST00000622880.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000258223 GTEx
  ENSG00000276785 GTEx
HGNC ID HGNC:39125 ENTREZGENE
Human Proteome Map PRSS58 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
KEGG Report hsa:136541 UniProtKB/Swiss-Prot
NCBI Gene 136541 ENTREZGENE
PANTHER KALLIKREIN-RELATED UniProtKB/Swiss-Prot
  SERINE PROTEASE 58 UniProtKB/Swiss-Prot
Pfam Trypsin UniProtKB/Swiss-Prot
PharmGKB PA166049038 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt B3KVJ6 ENTREZGENE
  D3DXD2 ENTREZGENE
  PRS58_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KVJ6 UniProtKB/Swiss-Prot
  D3DXD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 PRSS58  serine protease 58  PRSS58  protease, serine 58  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRSS58  protease, serine 58  PRSS58  protease, serine, 58  Symbol and/or name change 5135510 APPROVED
2011-07-27 PRSS58  protease, serine, 58  TRYX3  trypsin X3  Symbol and/or name change 5135510 APPROVED