LOVD XIAP homepage

General information
Gene name BIRC4 X-linked inhibitor of apoptosis
Gene symbol XIAP
Chromosome Location Xq25
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the XIAP database
Date of creation April 19, 2010
Last update April 23, 2010
Version XIAP100423
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007264.1
Transcript refseq ID NM_001167.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 20
Total number of individuals with variant(s) 2
Total number of variants reported 20
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the XIAP 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 XIAP database, without patient data
Complete sequence variant listing Listing of all sequence variants in the XIAP database
Variants with no known pathogenicity Listing of all XIAP 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 592
Entrez Gene 331
OMIM - Gene 300079
UniProtKB (SwissProt/TrEMBL) P98170
GeneCards XIAP
GeneTests XIAP
External link Mental Retardation database XIAP database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre