FAM83H

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 18252228; 18484629; 19220331; 19407157; 21702852; 23355523

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM83H variants in ClinVar

2 Conditions Cataloged

Amelogenesis imperfecta, hypocalcification typeTotal: 5

Amelogenesis imperfecta, type 3ATotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				10 clinvar	11 clinvar	21
missense			171 clinvar	9 clinvar	13 clinvar	193
nonsense	3 clinvar	1 clinvar				4
start loss						0
frameshift	2 clinvar		1 clinvar	1 clinvar		4
splice donor/acceptor (+/-2bp)						0
Total	5	1	172	20	24	222

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of cell migration
biomineral tissue development
protein localization to cytoskeleton
intermediate filament cytoskeleton organization

Molecular Function

protein kinase binding
keratin filament binding

Cellular Component

cytoplasm
keratin filament

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388913
Coding exons: 4
Length: 9869
Individuals with no LoFs: 124352
Homozygous LoFs: 0
Heterozygous LoFs: 435
Defined: 124787
p: 0.00174

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.417	824	791	1.04	0.0000623	7337
Missense (PolyPhen)		291	291.34	0.99882		2741
Synonymous	-2.10	440	387	1.14	0.0000341	2575
Loss of Function	4.16	5	29.3	0.171	0.00000160	325

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00059	0.00058	rare
Latino/Admixed American	0.00067	0.00067	rare
Ashkenazi Jewish	0.00089	0.00089	rare
East Asian	0.00018	0.00017	rare
Finnish	0.0012	0.0012	notable
European (Non-Finnish)	0.0030	0.0030	notable
South Asian	0.00039	0.00039	rare
Other	0.0026	0.0026	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688). {ECO:0000269|PubMed:18252228, ECO:0000269|PubMed:23902688}.;

Recessive Scores

pRec: 0.106

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.661

Gene Damage Prediction

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