SPECC1L-ADORA2A

ncRNA

SPECC1L-ADORA2A readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:7B:7

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr22:24,270,898-24,442,356

External References & Databases

Ensembl (ENSG00000258555)

NCBI Gene (101730217)

HGNC:49185

GenCC

ClinVar (SPECC1L-ADORA2A)

Transcript & Mutation Effects

hg38 • Region Span ~171.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SPECC1L-ADORA2A variants in ClinVar

16 Conditions Cataloged

not providedTotal: 156

Inborn genetic diseasesTotal: 47

Teebi hypertelorism syndromeTotal: 17

not specifiedTotal: 13

Teebi hypertelorism syndrome 1Total: 11

SPECC1L-related conditionTotal: 11

Autosomal dominant Opitz G/BBB syndromeTotal: 8

Oculomaxillofacial dysostosisTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7 clinvar	6 clinvar	1 clinvar	14
Total	0	0	7	6	1	14

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000358654.2	Ensembl	ENSP00000351480.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

actin cytoskeleton organization

Cellular Component

microtubule organizing center
filamentous actin

dbNSFP Gene Annotations

Source: dbNSFP