NDOR1

NADPH dependent diflavin oxidoreductase 1, the group of Cytosolic iron-sulfur assembly components

Basic information

Region (hg38): 9:137205685-137219361

Links

ENSG00000188566 ∙ NCBI:27158 ∙ OMIM:606073 ∙ HGNC:29838 ∙ Uniprot:Q9UHB4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 10.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_014434.4	NP_055249.1	14	yes	-
ENST00000684003.1	ENSP00000507194.1	14	yes	-
NM_001144026.3	NP_001137498.1	14	-	-
NM_001144027.3	NP_001137499.1	13	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NDOR1 gene.

• not_specified (143 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDOR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_014434.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	2		5
missense			140	5		145
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	146	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDOR1	protein_coding	protein_coding	ENST00000371521	14	11315

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125620	0	127	125747	0.000505

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.614	422	388	1.09	0.0000256	3834
Missense in Polyphen		123	131.08	0.93838		1360
Synonymous	-1.16	187	168	1.11	0.0000106	1307
Loss of Function	1.20	23	30.1	0.764	0.00000154	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000456	0.000452
Ashkenazi Jewish	0.00	0.00
East Asian	0.000926	0.000925
Finnish	0.00259	0.00236
European (Non-Finnish)	0.000286	0.000281
Middle Eastern	0.000926	0.000925
South Asian	0.000458	0.000457
Other	0.000497	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1. {ECO:0000255|HAMAP-Rule:MF_03178, ECO:0000269|PubMed:10625700, ECO:0000269|PubMed:20802492, ECO:0000269|PubMed:23596212}.
• Pathway: Metabolism;Cytosolic iron-sulfur cluster assembly (Consensus)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.0805
• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.46

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.795

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: cell death;iron-sulfur cluster assembly;cellular response to menadione;oxidation-reduction process
• Cellular component: nucleus;cytoplasm;cytosol;intermediate filament cytoskeleton;perinuclear region of cytoplasm
• Molecular function: NADPH-hemoprotein reductase activity;protein binding;FMN binding;oxidoreductase activity;flavin adenine dinucleotide binding;NADP binding