FAM162B

family with sequence similarity 162 member B

Basic information

Region (hg38): 6:116752196-116765719

Previous symbols: [ "C6orf189" ]

Links

ENSG00000183807 ∙ NCBI:221303 ∙ ∙ HGNC:21549 ∙ Uniprot:Q5T6X4 ∙ 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 FAM162B gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM162B 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in FAM162B

This is a list of pathogenic ClinVar variants found in the FAM162B region.

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

Position	Type	Phenotype	Significance	ClinVar
6-116761991-C-G		not specified	Uncertain significance (May 10, 2022)
6-116762012-T-C		not specified	Uncertain significance (Jan 23, 2023)
6-116762015-T-C		not specified	Uncertain significance (Dec 17, 2023)
6-116762023-C-G		not specified	Uncertain significance (Jun 24, 2022)
6-116762026-A-G		not specified	Uncertain significance (Oct 12, 2021)
6-116765190-T-C		not specified	Uncertain significance (Sep 29, 2022)
6-116765208-T-C		not specified	Uncertain significance (Dec 06, 2023)
6-116765228-C-T		not specified	Likely benign (Jan 03, 2022)
6-116765243-C-G		not specified	Uncertain significance (Jul 14, 2021)
6-116765243-C-T		not specified	Uncertain significance (Jul 13, 2021)
6-116765510-C-T		not specified	Uncertain significance (Aug 12, 2021)
6-116765512-C-T		not specified	Uncertain significance (Sep 14, 2022)
6-116765519-C-T		not specified	Uncertain significance (Dec 21, 2023)
6-116765543-C-T		not specified	Uncertain significance (Mar 17, 2023)
6-116765548-C-T		not specified	Uncertain significance (Jun 16, 2023)
6-116765560-C-T		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM162B	protein_coding	protein_coding	ENST00000368557	4	13524

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.24e-8	0.0612	124708	2	108	124818	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.120	74	77.0	0.961	0.00000380	1003
Missense in Polyphen		33	34.239	0.96381		408
Synonymous	0.805	23	28.5	0.808	0.00000140	345
Loss of Function	-0.760	10	7.72	1.30	4.84e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00331	0.00330
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.00192	0.00167
Finnish	0.000279	0.000278
European (Non-Finnish)	0.000135	0.000132
Middle Eastern	0.00192	0.00167
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.216
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam162b

Gene ontology

• Cellular component: integral component of membrane