C19orf44

chromosome 19 open reading frame 44

Basic information

Region (hg38): 19:16496394-16521352

Links

ENSG00000105072 ∙ NCBI:84167 ∙ ∙ HGNC:26141 ∙ Uniprot:Q9H6X5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• inherited retinal dystrophy (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C19orf44 gene.

• not_specified (15 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C19orf44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032207.4. 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				1		1
missense			7			7
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	8	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C19orf44	protein_coding	protein_coding	ENST00000221671	7	25042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.88e-9	0.561	125515	0	233	125748	0.000927

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.416	362	385	0.940	0.0000227	4284
Missense in Polyphen		85	90.564	0.93856		1148
Synonymous	0.624	155	165	0.938	0.0000117	1351
Loss of Function	1.16	16	21.9	0.732	0.00000102	279

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00111	0.00111
Ashkenazi Jewish	0.00248	0.00248
East Asian	0.000450	0.000435
Finnish	0.00255	0.00254
European (Non-Finnish)	0.000838	0.000835
Middle Eastern	0.000450	0.000435
South Asian	0.000425	0.000425
Other	0.000995	0.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.215
• rvis_EVS: -1
• rvis_percentile_EVS: 8.47

Haploinsufficiency Scores

• pHI: 0.0522
• hipred: N
• hipred_score: 0.123
• ghis: 0.540

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: 1700030K09Rik

Gene ontology

• Molecular function: protein binding