PC gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

PC gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

Gene name

pyruvate carboxylase

Chromosome

Chromosomal band

q13.4-q13.5

Imprinted

Unknown

Genomic reference

NC_000011.9

Transcript reference

NM_000920.3, NM_001040716.1, NM_022172.2, XM_005274030.1, XM_005274031.1, XM_005274032.1

Associated with diseases

266150

Citation reference(s)

Curators (0)

Total number of public variants reported

126

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 07, 2013

Graphical displays and utilities

Graphs

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

8636

Entrez Gene

5091

PubMed articles

OMIM - Gene

608786

OMIM - Diseases

266150 (Pyruvate carboxylase deficiency, 266150 (3))

HGMD

GeneCards

GeneTests

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
00000243	11	transcript variant 3	NM_001040716.1	NP_001035806.1	126
00000239	11	transcript variant X1	XM_005274030.1	XP_005274087.1	116
00000242	11	transcript variant 1	NM_000920.3	NP_000911.2	116
00000244	11	transcript variant 2	NM_022172.2	NP_071504.2	114
00000240	11	transcript variant X2	XM_005274031.1	XP_005274088.1	113
00000241	11	transcript variant X3	XM_005274032.1	XP_005274089.1	113

Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium