FAHD2B

fumarylacetoacetate hydrolase domain containing 2B

Basic information

Region (hg38): 2:97083582-97094882

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in FAHD2B

This is a list of pathogenic ClinVar variants found in the FAHD2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-97083817-T-C		not specified	Uncertain significance (Feb 27, 2024)
2-97083970-C-T		not specified	Uncertain significance (Feb 04, 2022)
2-97083983-C-T		not specified	Uncertain significance (Dec 28, 2022)
2-97084012-T-G		not specified	Uncertain significance (Apr 04, 2024)
2-97084215-T-C		not specified	Uncertain significance (Oct 26, 2021)
2-97084247-A-G		not specified	Uncertain significance (May 28, 2024)
2-97084250-C-T		not specified	Uncertain significance (Jul 07, 2022)
2-97084270-G-C		not specified	Uncertain significance (Mar 11, 2024)
2-97085782-T-C		not specified	Uncertain significance (Oct 03, 2023)
2-97085786-G-A		not specified	Uncertain significance (Aug 17, 2021)
2-97085861-C-T		not specified	Uncertain significance (Aug 09, 2021)
2-97090120-G-A		not specified	Uncertain significance (May 15, 2024)
2-97090132-C-G		not specified	Uncertain significance (Feb 28, 2024)
2-97090195-C-T		not specified	Uncertain significance (Jan 19, 2024)
2-97090261-A-G		not specified	Likely benign (Mar 31, 2022)
2-97090323-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-97091466-T-C		not specified	Uncertain significance (Dec 13, 2021)
2-97091469-C-T		not specified	Uncertain significance (Jan 04, 2022)
2-97091532-C-A		not specified	Uncertain significance (Aug 31, 2022)
2-97091546-T-C		not specified	Uncertain significance (Jun 10, 2024)
2-97091631-C-T		not specified	Uncertain significance (Apr 23, 2024)
2-97091684-C-T		not specified	Uncertain significance (May 17, 2023)
2-97091703-G-C		not specified	Uncertain significance (Mar 22, 2023)

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