Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55572
Gene name Gene Name - the full gene name approved by the HGNC.	FAD dependent oxidoreductase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FOXRED1
Synonyms (NCBI Gene) Gene synonyms aliases	FP634, H17, MC1DN19
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138061928	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs145888229	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606829	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267606830	A>C,G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs373075574	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs387907087	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398124308	->AGTG	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs536400690	G>C	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs544236849	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs749110767	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758966293	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs768720209	G>A	Pathogenic	Intron variant, upstream transcript variant, splice acceptor variant, genic upstream transcript variant, 5 prime UTR variant
rs863224019	A>G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs863224020	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555063749	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1555066709	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained

Show/Hide all(115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032389	hsa-let-7b-5p	Proteomics	18668040
MIRT042937	hsa-miR-324-3p	CLASH	23622248
MIRT1003709	hsa-miR-1827	CLIP-seq
MIRT1003710	hsa-miR-1914	CLIP-seq
MIRT1003711	hsa-miR-2682	CLIP-seq
MIRT1003712	hsa-miR-30a	CLIP-seq
MIRT1003713	hsa-miR-30b	CLIP-seq
MIRT1003714	hsa-miR-30c	CLIP-seq
MIRT1003715	hsa-miR-30d	CLIP-seq
MIRT1003716	hsa-miR-30e	CLIP-seq
MIRT1003717	hsa-miR-3124-3p	CLIP-seq
MIRT1003718	hsa-miR-3150a-3p	CLIP-seq
MIRT1003719	hsa-miR-3175	CLIP-seq
MIRT1003720	hsa-miR-4257	CLIP-seq
MIRT1003721	hsa-miR-4434	CLIP-seq
MIRT1003722	hsa-miR-4493	CLIP-seq
MIRT1003723	hsa-miR-449c	CLIP-seq
MIRT1003724	hsa-miR-4516	CLIP-seq
MIRT1003725	hsa-miR-4639-5p	CLIP-seq
MIRT1003726	hsa-miR-4716-3p	CLIP-seq
MIRT1003727	hsa-miR-4723-5p	CLIP-seq
MIRT1003728	hsa-miR-4728-5p	CLIP-seq
MIRT1003729	hsa-miR-4763-5p	CLIP-seq
MIRT1003730	hsa-miR-550a	CLIP-seq
MIRT1003731	hsa-miR-939	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT1997518	hsa-miR-1910	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT2231153	hsa-miR-1343	CLIP-seq
MIRT1997518	hsa-miR-1910	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT2231155	hsa-miR-4786-3p	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT2535098	hsa-miR-1197	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT2535099	hsa-miR-148a	CLIP-seq
MIRT2535100	hsa-miR-148b	CLIP-seq
MIRT2535101	hsa-miR-152	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT2535102	hsa-miR-1825	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT2535103	hsa-miR-3150b-3p	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT2535104	hsa-miR-4324	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1003729	hsa-miR-4763-5p	CLIP-seq
MIRT2535105	hsa-miR-4784	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT2535099	hsa-miR-148a	CLIP-seq
MIRT2535100	hsa-miR-148b	CLIP-seq
MIRT2535101	hsa-miR-152	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT2535102	hsa-miR-1825	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT2681157	hsa-miR-2467-3p	CLIP-seq
MIRT2681158	hsa-miR-3678-3p	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20858599
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25678554
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	25678554

MIM	HGNC	e!Ensembl
613622	26927	ENSG00000110074

Protein

UniProt ID

Q96CU9

Protein name

FAD-dependent oxidoreductase domain-containing protein 1 (EC 1.-.-.-)

Protein function

Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554). {ECO:0000269|PubMed:20858599, ECO:0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01266	DAO	65 → 455	FAD dependent oxidoreductase	Domain

Sequence

MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLP
PEHSDVVIVGGGVLGLSVAYWLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFS
LPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYLLLASEKDAAAMESNVKVQRQ
EGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQ
GEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAA
LAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYL
GGRSPTEQEEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNTFDQNG
VVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKI
QENNII

Sequence length

486

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
leigh syndrome	Leigh syndrome	rs398124308, rs1555066709, rs267606829	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex 1 deficiency, nuclear type 19, mitochondrial complex i deficiency, Mitochondrial complex I deficiency, nuclear type 1	rs398124308, rs768720209, rs749110767, rs267606829, rs1555066709, rs267606830, rs387907087	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs398124308	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
developmental delay	Developmental delay	N/A	N/A	ClinVar
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	33482886
Breast Neoplasms	Associate	39684297
Carcinogenesis	Associate	39684297
Epilepsy	Associate	27215383
Leigh Disease	Associate	25681241
Mitochondrial complex I deficiency	Associate	20818383, 20858599, 27215383
Mitochondrial complex I deficiency	Stimulate	25681241
Mitochondrial Diseases	Associate	20858599
Mitochondrial Encephalomyopathies	Associate	20858599, 25681241
Mitochondrial encephalopathy	Associate	20858599
Neoplasms	Associate	39684297
Psychomotor Disorders	Associate	27215383

FOXRED1 (FAD dependent oxidoreductase domain containing 1)