FAM86C1P

family with sequence similarity 86 member C1, pseudogene

Basic information

Region (hg38): 11:71787537-71799660

Previous symbols: [ "FAM86C", "FAM86C1" ]

Links

ENSG00000158483 ∙ NCBI:55199 ∙ OMIM:616124 ∙ HGNC:25561 ∙ Uniprot:Q9NVL1 ∙ 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 FAM86C1P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM86C1P gene is commonly pathogenic or not. These statistics are base on transcript: . 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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM86C1P	protein_coding	protein_coding	ENST00000359244	5	13727

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.56e-12	0.00445	125532	0	39	125571	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.69	133	88.4	1.50	0.00000512	1010
Missense in Polyphen		35	25.208	1.3885		337
Synonymous	-2.87	58	36.1	1.61	0.00000213	310
Loss of Function	-1.76	14	8.47	1.65	3.61e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000579	0.000521
Ashkenazi Jewish	0.00	0.00
East Asian	0.000548	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000168
Middle Eastern	0.000548	0.000544
South Asian	0.00	0.00
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.01

Haploinsufficiency Scores

• pHI: 0.0939
• hipred: N
• hipred_score: 0.148
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: methylation
• Cellular component: protein-containing complex
• Molecular function: protein binding;methyltransferase activity