FAHD2B

fumarylacetoacetate hydrolase domain containing 2B

Basic information

Region (hg38): 2:97082040-97094898

Links

ENSG00000144199 ∙ NCBI:151313 ∙ ∙ HGNC:25318 ∙ Uniprot:Q6P2I3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAHD2B gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAHD2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320848.2. 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						0
missense			43	1		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAHD2B	protein_coding	protein_coding	ENST00000414820	7	11300

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.59e-8	0.322	125426	4	302	125732	0.00122

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.408	158	173	0.913	0.00000899	2037
Missense in Polyphen		63	63.312	0.99507		783
Synonymous	-0.203	72	69.8	1.03	0.00000387	642
Loss of Function	0.560	12	14.3	0.840	6.93e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000609	0.000607
Ashkenazi Jewish	0.00	0.00
East Asian	0.0146	0.0144
Finnish	0.000233	0.000231
European (Non-Finnish)	0.0000887	0.0000791
Middle Eastern	0.0146	0.0144
South Asian	0.000328	0.000327
Other	0.000502	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have hydrolase activity. {ECO:0000250}.

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.531
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.27

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.255
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Gene ontology

• Molecular function: hydrolase activity;metal ion binding