KIAA1755

protein-coding

KIAA1755

Gene summary

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in axon guidance. Predicted to be active in cytoplasm and plasma membrane. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001029864.2

Inheritance

—

ClinVar variants

U:186B:25

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr20:38,210,503-38,260,772

External References & Databases

Ensembl (ENSG00000149633)

Transcript & Mutation Effects

hg38 • Region Span ~50.3 kb

Loading mutation effect viewer...

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 KIAA1755 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 200

not providedTotal: 4

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001029864.2. 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			1 clinvar	2 clinvar		3
missense			184 clinvar	21 clinvar	1 clinvar	206
nonsense					1 clinvar	1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	186	23	2	211

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 57 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001029864.2	RefSeq	NP_001025035.1	14	MANE Select
ENST00000279024.9	Ensembl	ENSP00000279024.4	14	MANE Select
NM_001348708.2	RefSeq	NP_001335637.1	12	Standard
ENST00000435901.1	Ensembl	ENSP00000393503.1	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000279024
Coding exons: 14
Length: 50285
Individuals with no LoFs: 125506
Homozygous LoFs: 0
Heterozygous LoFs: 242
Defined: 125748
p: 0.000963

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.320	676	653	1.04	0.0000360	7633
Missense (PolyPhen)		173	163.29	1.0595		2007
Synonymous	-0.0785	272	270	1.01	0.0000146	2558
Loss of Function	1.39	31	40.5	0.765	0.00000199	491

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00055	rare
Latino/Admixed American	0.0013	0.0013	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.0047	0.0046	notable
Finnish	0.000098	0.000092	rare
European (Non-Finnish)	0.00049	0.00047	rare
South Asian	0.0017	0.0015	notable
Other	0.00036	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.900
RVIS EVS: 0.42
RVIS percentile EVS: 76.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0800

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High