USP17L9P (ubiquitin specific peptidase 17 like family member 9, pseudogene) - Rat Genome Database

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Gene: USP17L9P (ubiquitin specific peptidase 17 like family member 9, pseudogene) Homo sapiens
Analyze
Symbol: USP17L9P
Name: ubiquitin specific peptidase 17 like family member 9, pseudogene
RGD ID: 1349777
HGNC Page HGNC:12615
Description: INTERACTS WITH butanal; cadmium atom; copper(II) sulfate
Type: pseudo (Ensembl: unprocessed_pseudogene)
RefSeq Status: VALIDATED
Previously known as: deubiquitinating enzyme 17; deubiquitinating enzyme 3-like; MGC119330; MGC119331; MGC119333; RS447; ubiquitin carboxyl-terminal hydrolase 17; ubiquitin specific peptidase 17-like family member 9, pseudogene; ubiquitin specific protease 17; ubiquitin thioesterase 17; ubiquitin thiolesterase 17; ubiquitin-specific-processing protease 17; USP17; USP17A; USP17H; USP17I; USP17J; USP17K; USP17L; USP17M
Related Functional Gene: USP17L1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3849,358,382 - 9,359,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl49,358,383 - 9,359,975 (+)EnsemblGRCh38hg38GRCh38
GRCh3749,360,108 - 9,361,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3648,969,207 - 8,970,799 (+)NCBINCBI36Build 36hg18NCBI36
Celera49,042,107 - 9,043,021 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef48,720,668 - 8,721,795 (+)NCBIHuRef
T2T-CHM13v2.049,378,904 - 9,380,496 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9192848   PMID:9806828   PMID:10936051   PMID:11181995   PMID:11941478   PMID:12477932   PMID:12838346   PMID:14699124   PMID:15780755   PMID:15815621   PMID:17109758   PMID:19615732  
PMID:20147298   PMID:20368735   PMID:20388806   PMID:21239494   PMID:21448158   PMID:22662218   PMID:24123619   PMID:24134311   PMID:25070893   PMID:25202122   PMID:26610488   PMID:27656837  
PMID:27756680   PMID:28670958   PMID:30409180   PMID:30854565   PMID:30906206   PMID:31534019   PMID:31682009   PMID:35064336   PMID:35076962   PMID:38008034  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:82
Count of miRNA genes:76
Interacting mature miRNAs:79
Transcripts:ENST00000508843
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
G01806  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
G34441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
G01912  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
G42601  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map8p23.1UniSTS
SHGC-145429  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p15UniSTS
Cytogenetic Map4p16.1UniSTS
TNG Radiation Hybrid Map47008.0UniSTS


Expression


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

circulatory system integumental system nervous system reproductive system respiratory system appendage
High
Medium
Low
Below cutoff 1 2 2 4 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000508843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl49,358,383 - 9,359,975 (+)Ensembl
RefSeq Acc Id: NR_046416
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3849,358,382 - 9,359,974 (+)NCBI
T2T-CHM13v2.049,378,904 - 9,380,496 (+)NCBI
Sequence:
Protein Sequences
GenBank Protein AAQ11741 (Get FASTA)   NCBI Sequence Viewer  
  AAQ11742 (Get FASTA)   NCBI Sequence Viewer  
  EAW92671 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences


Additional Information

Database Acc Id Source(s)
COSMIC USP17L9P COSMIC
Ensembl Genes ENSG00000251694 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000508843 ENTREZGENE
GTEx ENSG00000251694 GTEx
HGNC ID HGNC:12615 ENTREZGENE
Human Proteome Map USP17L9P Human Proteome Map
NCBI Gene 391627 ENTREZGENE
OMIM 607011 OMIM
PharmGKB PA37241 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 USP17L9P  ubiquitin specific peptidase 17 like family member 9, pseudogene    ubiquitin specific peptidase 17-like family member 9, pseudogene  Symbol and/or name change 5135510 APPROVED
2012-10-16 USP17L9P  ubiquitin specific peptidase 17-like family member 9, pseudogene  USP17  ubiquitin specific peptidase 17  Symbol and/or name change 5135510 APPROVED