KIAA1328

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				1 clinvar		1
missense			74 clinvar	3 clinvar	1 clinvar	78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	78	4	1	83

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020776.3	RefSeq	NP_065827.1	10	MANE Select
ENST00000280020.10	Ensembl	ENSP00000280020.5	10	MANE Select
NM_001322327.2	RefSeq	NP_001309256.1	8	Standard
NM_001353918.2	RefSeq	NP_001340847.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000280020
Coding exons: 10
Length: 403067
Individuals with no LoFs: 124621
Homozygous LoFs: 0
Heterozygous LoFs: 18
Defined: 124639
p: 0.0000722

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.668	251	283	0.888	0.0000136	3717
Missense (PolyPhen)		57	71.625	0.79582		1128
Synonymous	0.562	93	100	0.929	0.00000462	1079
Loss of Function	1.85	16	26.2	0.610	0.00000124	373

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00020	0.00019	rare
Latino/Admixed American	0.000031	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0.000094	0.000093	rare
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0.00010	0.000098	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes. {ECO:0000269|PubMed:15656913}.;

Intolerance Scores

LoFtool: 0.849
RVIS EVS: 0.04
RVIS percentile EVS: 57.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.304