FAM227B

Gene

family with sequence similarity 227 member B

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C15orf33

MANE transcript

NM_152647.3

Inheritance

—

ClinVar variants

U:78B:2

Top phenotype

Autoinflammatory syndrome

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chr15:49,326,962-49,620,929

External References & Databases

Ensembl (ENSG00000166262)

Transcript & Mutation Effects

hg38 • Region Span ~294.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FAM227B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 88

not providedTotal: 2

Autoinflammatory syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152647.3. 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			2 clinvar			2
missense			72 clinvar	2 clinvar		74
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	78	2	0	80

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 64 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152647.3	RefSeq	NP_689860.2	15	MANE Select
ENST00000299338.11	Ensembl	ENSP00000299338.6	15	MANE Select
NM_001330293.2	RefSeq	NP_001317222.1	10	Standard
ENST00000558579.5	Ensembl	ENSP00000453787.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000299338
Coding exons: 15
Length: 293970
Individuals with no LoFs: 125621
Homozygous LoFs: 0
Heterozygous LoFs: 127
Defined: 125748
p: 0.000505

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0727	245	248	0.987	0.0000119	3340
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00019	0.00017	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00095	0.00091	rare
South Asian	0.00029	0.00026	rare
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.33
RVIS percentile EVS: 30.7

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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