KTI12

KTI12 chromatin associated homolog

Basic information

Region (hg38): 1:52032103-52033810

Links

ENSG00000198841 ∙ NCBI:112970 ∙ ∙ HGNC:25160 ∙ Uniprot:Q96EK9 ∙ 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 KTI12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KTI12 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						0
missense			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in KTI12

This is a list of pathogenic ClinVar variants found in the KTI12 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-52032710-T-C		not specified	Uncertain significance (May 30, 2022)
1-52032711-G-C		not specified	Uncertain significance (Dec 02, 2022)
1-52032761-T-C		not specified	Uncertain significance (Jul 25, 2023)
1-52032918-G-C		not specified	Uncertain significance (Dec 14, 2023)
1-52032943-C-A		not specified	Uncertain significance (Feb 22, 2023)
1-52032948-G-A		not specified	Uncertain significance (Aug 19, 2023)
1-52033008-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-52033049-G-A		not specified	Uncertain significance (Feb 06, 2023)
1-52033082-C-T		not specified	Uncertain significance (Sep 01, 2021)
1-52033161-C-T		not specified	Likely benign (May 10, 2024)
1-52033164-A-C		not specified	Uncertain significance (Nov 09, 2023)
1-52033196-G-C		not specified	Uncertain significance (Apr 18, 2023)
1-52033265-G-A		not specified	Likely benign (Apr 13, 2022)
1-52033308-G-A		not specified	Uncertain significance (Feb 27, 2024)
1-52033339-G-C		not specified	Uncertain significance (Mar 01, 2024)
1-52033436-C-G		not specified	Uncertain significance (Jan 09, 2024)
1-52033455-A-C		not specified	Uncertain significance (Feb 02, 2024)
1-52033476-G-A		not specified	Uncertain significance (Oct 20, 2023)
1-52033508-T-C		not specified	Uncertain significance (Feb 16, 2023)
1-52033659-C-T		not specified	Uncertain significance (Jan 04, 2022)
1-52033712-C-T		not specified	Uncertain significance (Aug 26, 2022)
1-52033725-C-A		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KTI12	protein_coding	protein_coding	ENST00000371614	1	1714

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000403	0.653	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.498	240	219	1.09	0.0000106	2248
Missense in Polyphen		54	51.771	1.043		533
Synonymous	-0.564	107	99.8	1.07	0.00000480	807
Loss of Function	0.725	6	8.25	0.728	3.49e-7	94

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.534
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.63

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.379
• ghis: 0.570

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.262

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kti12

Gene ontology

• Biological process: tRNA wobble uridine modification;regulation of transcription by RNA polymerase II
• Cellular component: Elongator holoenzyme complex
• Molecular function: protein binding;ATP binding