FAM153A

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						0
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0	34

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001413826.1	RefSeq	NP_001400755.1	19	MANE Select
ENST00000697116.2	Ensembl	ENSP00000513119.1	19	MANE Select
NM_001394339.1	RefSeq	NP_001381268.1	21	Standard
NM_173663.5	RefSeq	NP_775934.3	19	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000440605
Coding exons: 19
Length: 75418
Individuals with no LoFs: 125719
Homozygous LoFs: 3
Heterozygous LoFs: 25
Defined: 125747
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.498	97	112	0.868	0.00000592	1998
Missense (PolyPhen)		16	24.426	0.65504		538
Synonymous	-0.191	44	42.4	1.04	0.00000239	556
Loss of Function	1.12	10	14.6	0.683	6.62e-7	288

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000068	0.000062	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00080	0.00060	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000045	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00414

Gene Damage Prediction

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