ADAMTSL4-AS1

ADAMTSL4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:150560202-150562115

Previous symbols: [ "C1orf138" ]

Links

ENSG00000203804 ∙ ∙ ∙ HGNC:32041 ∙ Uniprot:Q5T5F5 ∙ 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 ADAMTSL4-AS1 gene.

• Ectopia lentis 2, isolated, autosomal recessive (14 variants)
• Ectopia lentis (2 variants)
• Ectopia lentis et pupillae (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTSL4-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			11	3	2	16
Total	0	0	11	3	2

Variants in ADAMTSL4-AS1

This is a list of pathogenic ClinVar variants found in the ADAMTSL4-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-150560316-G-A		Ectopia lentis 2, isolated, autosomal recessive • Ectopia lentis et pupillae	Benign (Apr 11, 2023)
1-150560322-G-A		Ectopia lentis 2, isolated, autosomal recessive	Likely benign (Jan 13, 2018)
1-150560472-G-A		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560491-G-C		Ectopia lentis 2, isolated, autosomal recessive	Likely benign (Jan 12, 2018)
1-150560501-G-A		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560528-A-G		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560529-G-A		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 12, 2018)
1-150560603-C-T		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 12, 2018)
1-150560635-C-T		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560651-CTG-C		Ectopia lentis	Uncertain significance (Jun 14, 2016)
1-150560832-C-A		Ectopia lentis 2, isolated, autosomal recessive	Benign (Jan 12, 2018)
1-150560835-C-G		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560836-C-A		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 12, 2018)
1-150560866-C-G		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 12, 2018)
1-150560870-C-T		Ectopia lentis 2, isolated, autosomal recessive	Uncertain significance (Jan 13, 2018)
1-150560949-T-A		Ectopia lentis	Likely benign (Jun 14, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMTSL4-AS1	protein_coding	protein_coding	ENST00000369035	1	490

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.768	21	33.5	0.627	0.00000155	792
Missense in Polyphen
Synonymous	0.0503	15	15.3	0.984	6.88e-7	289
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.163
• ghis: 0.483

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

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