FAM227B

family with sequence similarity 227 member B

Basic information

Region (hg38): 15:49326961-49620929

Previous symbols: [ "C15orf33" ]

Links

ENSG00000166262 ∙ NCBI:196951 ∙ ∙ HGNC:26543 ∙ Uniprot:Q96M60 ∙ 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 FAM227B gene.

• Inborn genetic diseases (24 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM227B 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5			5
Total	0	0	23	1	0

Variants in FAM227B

This is a list of pathogenic ClinVar variants found in the FAM227B region.

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

Position	Type	Phenotype	Significance	ClinVar
15-49327994-G-C		not specified	Uncertain significance (Jun 22, 2023)
15-49328013-A-G		not specified	Uncertain significance (Feb 23, 2023)
15-49328020-C-T		not specified	Uncertain significance (Jan 24, 2023)
15-49328061-G-A		not specified	Uncertain significance (Jun 21, 2023)
15-49328675-G-A		not specified	Uncertain significance (Jun 10, 2022)
15-49335465-T-G		not specified	Uncertain significance (Jan 29, 2024)
15-49335477-G-A		not specified	Uncertain significance (Nov 10, 2022)
15-49335492-G-A		not specified	Uncertain significance (Aug 10, 2023)
15-49367461-T-C		not specified	Uncertain significance (Jan 24, 2023)
15-49367562-T-C		not specified	Uncertain significance (Apr 07, 2022)
15-49371309-G-T		not specified	Uncertain significance (Jun 12, 2023)
15-49371364-G-C		not specified	Uncertain significance (Feb 27, 2023)
15-49371397-T-C		not specified	Uncertain significance (Jun 01, 2023)
15-49424373-G-T		not specified	Uncertain significance (Feb 06, 2023)
15-49424377-C-G		not specified	Uncertain significance (Jan 12, 2024)
15-49424404-C-T		not specified	Uncertain significance (Jan 24, 2024)
15-49484458-A-C		not specified	Uncertain significance (Dec 28, 2023)
15-49508220-T-C		not specified	Uncertain significance (Mar 21, 2023)
15-49508279-C-A		not specified	Uncertain significance (May 08, 2023)
15-49508280-C-A		not specified	Uncertain significance (Jul 16, 2021)
15-49541730-T-G		not specified	Uncertain significance (Jun 12, 2023)
15-49541745-G-A		not specified	Uncertain significance (Apr 08, 2022)
15-49541757-G-A		not specified	Uncertain significance (Dec 12, 2023)
15-49541769-G-A		not specified	Uncertain significance (Dec 08, 2023)
15-49568282-A-G		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM227B	protein_coding	protein_coding	ENST00000299338	15	293970

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.35e-23	0.000327	125621	0	127	125748	0.000505

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0727	245	248	0.987	0.0000119	3340
Missense in Polyphen		60	62.375	0.96193		871
Synonymous	-0.317	88	84.3	1.04	0.00000424	845
Loss of Function	-0.360	33	30.8	1.07	0.00000162	385

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000188
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00	0.00
Finnish	0.000280	0.000277
European (Non-Finnish)	0.000952	0.000915
Middle Eastern	0.00	0.00
South Asian	0.000293	0.000261
Other	0.000353	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.7

Haploinsufficiency Scores

• pHI: 0.330
• hipred: N
• hipred_score: 0.112
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fam227b