NUBPL gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	NUBPL
Gene name	nucleotide binding protein-like
Chromosome	14
Chromosomal band	q12
Imprinted	Unknown
Genomic reference	NC_000014.8
Transcript reference	NM_001201573.1, NM_025152.2
Associated with diseases	252010, 618242
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	80
Unique public DNA variants reported	77
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Notes	MSeqDR-LSDB
Date created	November 07, 2013

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	20278
Entrez Gene	80224
PubMed articles	NUBPL
OMIM - Gene	613621
OMIM - Diseases	252010 (Mitochondrial complex I deficiency, 252010 (3)) 618242 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21)
HGMD	NUBPL
GeneCards	NUBPL
GeneTests	NUBPL

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000227	14	transcript variant 1	NM_025152.2	NP_079428.2	80
00000228	14	transcript variant 2	NM_001201573.1	NP_001188502.1	65

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium