ADISSP

adipose secreted signaling protein

Basic information

Region (hg38): 20:3753507-3767781

Previous symbols: [ "C20orf27" ]

Links

ENSG00000101220 ∙ NCBI:54976 ∙ ∙ HGNC:15873 ∙ Uniprot:Q9GZN8 ∙ 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 ADISSP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADISSP 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			1			1
Total	0	0	1	0	0

Variants in ADISSP

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

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

Position	Type	Phenotype	Significance	ClinVar
20-3760034-C-T		not specified	Uncertain significance (Sep 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADISSP	protein_coding	protein_coding	ENST00000217195	5	14880

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00866	0.814	125692	0	38	125730	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.718	110	133	0.825	0.00000860	1294
Missense in Polyphen		24	40.389	0.59421		405
Synonymous	-0.388	62	58.2	1.06	0.00000451	403
Loss of Function	1.06	4	7.04	0.568	2.96e-7	90

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000882	0.0000882
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00	0.00
Finnish	0.000560	0.000555
European (Non-Finnish)	0.000155	0.000149
Middle Eastern	0.00	0.00
South Asian	0.0000334	0.0000327
Other	0.000667	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.171
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.231
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 1700037H04Rik

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function