TXLNB

taxilin beta

Basic information

Region (hg38): 6:139239083-139291998

Previous symbols: [ "C6orf198" ]

Links

ENSG00000164440 ∙ NCBI:167838 ∙ OMIM:611438 ∙ HGNC:21617 ∙ Uniprot:Q8N3L3 ∙ 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 TXLNB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXLNB 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			36	2		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	2	0

Variants in TXLNB

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

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

Position	Type	Phenotype	Significance	ClinVar
6-139242537-C-G		not specified	Uncertain significance (Nov 18, 2022)
6-139242621-G-A		not specified	Uncertain significance (Jan 11, 2023)
6-139242639-A-G		not specified	Uncertain significance (May 11, 2022)
6-139242669-C-T		not specified	Uncertain significance (Jul 25, 2023)
6-139242703-C-T		not specified	Uncertain significance (Dec 07, 2021)
6-139242723-C-G		not specified	Likely benign (Jan 08, 2024)
6-139242773-G-A		not specified	Uncertain significance (Feb 07, 2023)
6-139242776-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-139242893-G-A		not specified	Uncertain significance (May 14, 2024)
6-139242954-G-T		not specified	Uncertain significance (May 30, 2024)
6-139242959-G-A		not specified	Uncertain significance (May 18, 2022)
6-139242986-T-C		not specified	Likely benign (May 05, 2023)
6-139242990-G-C		not specified	Uncertain significance (Aug 02, 2023)
6-139243057-C-T		not specified	Uncertain significance (Nov 09, 2021)
6-139243118-A-G		not specified	Uncertain significance (May 13, 2024)
6-139243170-G-T		not specified	Uncertain significance (Jan 29, 2024)
6-139243191-A-G		not specified	Likely benign (Apr 29, 2024)
6-139244646-C-G		not specified	Uncertain significance (Feb 10, 2022)
6-139255604-G-T		not specified	Uncertain significance (Jul 25, 2023)
6-139260329-C-G		not specified	Uncertain significance (Jan 18, 2022)
6-139262661-C-T		not specified	Uncertain significance (Jul 19, 2023)
6-139262678-G-C		not specified	Uncertain significance (Feb 27, 2023)
6-139262752-G-A		not specified	Uncertain significance (Mar 07, 2024)
6-139262766-G-A		not specified	Uncertain significance (Dec 19, 2022)
6-139270512-G-C		not specified	Uncertain significance (May 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TXLNB	protein_coding	protein_coding	ENST00000358430	9	52079

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.81e-12	0.340	125603	0	145	125748	0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.639	407	372	1.09	0.0000210	4494
Missense in Polyphen		125	130.1	0.96077		1696
Synonymous	0.937	135	150	0.903	0.00000977	1273
Loss of Function	1.12	21	27.3	0.768	0.00000167	300

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00222	0.00222
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.00174	0.00169
Finnish	0.00	0.00
European (Non-Finnish)	0.000441	0.000440
Middle Eastern	0.00174	0.00169
South Asian	0.000294	0.000294
Other	0.000815	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic. {ECO:0000250}.

Recessive Scores

• pRec: 0.0877

Intolerance Scores

• loftool: 0.952
• rvis_EVS: 1
• rvis_percentile_EVS: 90.77

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.219
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.154

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Txlnb

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding;syntaxin binding