LOVD PSIP1 homepage

General information
Gene name PC4 and SFRS1 interacting protein 1
Gene symbol PSIP1
Chromosome Location 9p22.2
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the PSIP1 database
Date of creation September 04, 2014
Last update September 08, 2014
Version PSIP1 140908
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Reference sequence file coding DNA reference sequence for describing sequence variants
GenBank reference PSIP1_lovd.gb
Transcript refseq ID NM_001128217.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 1
Total number of variants reported 1
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PSIP1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PSIP1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PSIP1 database
Variants with no known pathogenicity Listing of all PSIP1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 9527
Entrez Gene 11168
OMIM - Gene 603620
UniProtKB (SwissProt/TrEMBL) O75475
GeneCards PSIP1
GeneTests PSIP1