KIAA1755

KIAA1755

Basic information

Region (hg38): 20:38210502-38260772

Links

ENSG00000149633 ∙ NCBI:85449 ∙ ∙ HGNC:29372 ∙ Uniprot:Q5JYT7 ∙ 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 KIAA1755 gene.

• Inborn genetic diseases (60 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA1755 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			55	5	1	61
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	7	2

Variants in KIAA1755

This is a list of pathogenic ClinVar variants found in the KIAA1755 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-38213103-C-T		not specified	Uncertain significance (Oct 27, 2021)
20-38213197-G-A		not specified	Uncertain significance (Jan 16, 2024)
20-38213221-A-C		not specified	Likely benign (Aug 13, 2021)
20-38213269-G-C		not specified	Uncertain significance (Feb 21, 2024)
20-38213382-C-A		not specified	Uncertain significance (Oct 06, 2023)
20-38213436-C-T		not specified	Uncertain significance (Aug 12, 2022)
20-38213437-G-A			Benign (Dec 31, 2019)
20-38213446-G-A		not specified	Uncertain significance (Jun 21, 2022)
20-38213556-C-A		Malignant tumor of prostate	Uncertain significance (-)
20-38213602-C-T		not specified	Likely benign (Jul 06, 2021)
20-38213655-C-T		not specified	Uncertain significance (Aug 16, 2021)
20-38213732-G-T		not specified	Uncertain significance (Aug 21, 2023)
20-38217288-C-T		not specified	Uncertain significance (Mar 01, 2024)
20-38217300-G-C		not specified	Uncertain significance (Dec 21, 2022)
20-38217305-C-A		not specified	Uncertain significance (Dec 12, 2023)
20-38217306-G-A		not specified	Uncertain significance (Jun 28, 2023)
20-38217317-A-G		not specified	Uncertain significance (Aug 14, 2023)
20-38217392-C-A		not specified	Uncertain significance (Jul 13, 2021)
20-38217393-G-A		not specified	Uncertain significance (Mar 29, 2023)
20-38217458-C-T		not specified	Uncertain significance (May 31, 2023)
20-38217461-C-T		not specified	Uncertain significance (Jun 28, 2022)
20-38217467-T-C		not specified	Uncertain significance (Jun 30, 2022)
20-38218246-C-T		not specified	Uncertain significance (Sep 16, 2021)
20-38219665-C-T		not specified	Likely benign (Dec 15, 2023)
20-38219668-G-C		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA1755	protein_coding	protein_coding	ENST00000279024	14	50285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.89e-17	0.216	125506	0	242	125748	0.000963

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.320	676	653	1.04	0.0000360	7633
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00187	0.00186
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00469	0.00463
Finnish	0.0000977	0.0000924
European (Non-Finnish)	0.000486	0.000475
Middle Eastern	0.00469	0.00463
South Asian	0.00171	0.00147
Other	0.000363	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.900
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.82

Haploinsufficiency Scores

• pHI: 0.0347
• hipred: N
• hipred_score: 0.153
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0800

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: D630003M21Rik