KIAA1586

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			101 clinvar	7 clinvar		108
nonsense				2 clinvar		2
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	101	10	0	111

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020931.4	RefSeq	NP_065982.1	4	MANE Select
ENST00000370733.5	Ensembl	ENSP00000359768.4	4	MANE Select
NM_001286274.2	RefSeq	NP_001273203.1	3	Standard
NM_001286275.2	RefSeq	NP_001273204.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein sumoylation

Molecular Function

SUMO ligase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370733
Coding exons: 4
Length: 8677
Individuals with no LoFs: 124688
Homozygous LoFs: 8
Heterozygous LoFs: 1051
Defined: 125747
p: 0.00422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.544	404	374	1.08	0.0000179	5193
Missense (PolyPhen)		82	88.475	0.92682		1327
Synonymous	0.513	125	133	0.943	0.00000647	1436
Loss of Function	1.09	19	24.8	0.765	0.00000126	407

Population LoF Frequency

Population	CAF	p-value	Status
African	0.037	0.033	notable
Latino/Admixed American	0.0030	0.0026	notable
Ashkenazi Jewish	0.00043	0.00040	rare
East Asian	0.0033	0.0032	notable
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.0018	0.0017	notable
South Asian	0.0060	0.0055	notable
Other	0.0025	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins (PubMed:26524493).;

Intolerance Scores

LoFtool: 0.965
RVIS EVS: 0.58
RVIS percentile EVS: 82.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.171

Gene Damage Prediction

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