TXLNG

taxilin gamma

Basic information

Region (hg38): X:16786432-16844519

Previous symbols: [ "CXorf15" ]

Links

ENSG00000086712 ∙ NCBI:55787 ∙ OMIM:300677 ∙ HGNC:18578 ∙ Uniprot:Q9NUQ3 ∙ 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 TXLNG gene.

• not_specified (50 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXLNG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018360.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			48	2	1	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TXLNG	protein_coding	protein_coding	ENST00000380122	10	58093

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00155	122733	1	1	122735	0.00000815

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0863	181	184	0.982	0.0000141	3469
Missense in Polyphen		19	40.629	0.46764		946
Synonymous	-0.497	81	75.5	1.07	0.00000625	960
Loss of Function	4.02	0	18.8	0.00	0.00000149	327

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)	0.0000255	0.00000895
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000252	0.000169

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression. {ECO:0000269|PubMed:15911876, ECO:0000269|PubMed:18068885}.
• Pathway: Validated transcriptional targets of AP1 family members Fra1 and Fra2 (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.8

Haploinsufficiency Scores

• pHI: 0.801
• hipred: Y
• hipred_score: 0.592
• ghis: 0.465

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Txlng
• Phenotype: skeleton phenotype; normal phenotype

Gene ontology

• Biological process: cell cycle;regulation of cell cycle process;regulation of bone mineralization;regulation of cell cycle
• Cellular component: cytosol;nuclear membrane
• Molecular function: syntaxin binding;protein heterodimerization activity