TXLNB

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			95 clinvar	6 clinvar		101
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	96	6	0	102

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153235.4	RefSeq	NP_694967.3	9	MANE Select
ENST00000358430.8	Ensembl	ENSP00000351206.3	9	MANE Select
ENST00000367652.4	Ensembl	ENSP00000356624.4	3	Standard
ENST00000715942.1	Ensembl	ENSP00000520544.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
syntaxin binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358430
Coding exons: 9
Length: 52079
Individuals with no LoFs: 125603
Homozygous LoFs: 0
Heterozygous LoFs: 145
Defined: 125748
p: 0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.639	407	372	1.09	0.0000210	4494
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0017	notable
Latino/Admixed American	0.00050	0.00049	rare
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.0017	0.0017	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00044	0.00044	rare
South Asian	0.00029	0.00029	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.154

Gene Damage Prediction

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