FAM234B

family with sequence similarity 234 member B

Basic information

Region (hg38): 12:13044381-13142521

Previous symbols: [ "KIAA1467" ]

Links

ENSG00000084444 ∙ NCBI:57613 ∙ OMIM:617838 ∙ HGNC:29288 ∙ Uniprot:A2RU67 ∙ 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 FAM234B gene.

• not_specified (66 variants)
• FAM234B-related_disorder (11 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM234B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020853.2. 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				6	1	7
missense			61	6	3	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	12	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAM234B	protein_coding	protein_coding	ENST00000197268	13	98238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0253	0.975	125710	0	36	125746	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.490	329	355	0.927	0.0000193	3983
Missense in Polyphen		85	114.88	0.73992		1353
Synonymous	-1.42	169	147	1.15	0.00000863	1335
Loss of Function	3.71	9	31.5	0.286	0.00000179	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000394
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000272	0.000272
Finnish	0.000370	0.000370
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.000272	0.000272
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.6

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.384
• ghis: 0.590

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam234b
• Phenotype: immune system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Cellular component: integral component of membrane