CARMIL3

capping protein regulator and myosin 1 linker 3

Basic information

Region (hg38): 14:24052009-24069729

Previous symbols: [ "C14orf121", "LRRC16B" ]

Links

ENSG00000186648 ∙ NCBI:90668 ∙ OMIM:614716 ∙ HGNC:20272 ∙ Uniprot:Q8ND23 ∙ 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 CARMIL3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CARMIL3 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in CARMIL3

This is a list of pathogenic ClinVar variants found in the CARMIL3 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-24055756-A-T		not specified	Uncertain significance (Sep 16, 2021)
14-24056921-A-G		not specified	Uncertain significance (Oct 26, 2021)
14-24060247-G-A		not specified	Uncertain significance (Aug 04, 2021)
14-24060250-G-A		not specified	Uncertain significance (Sep 15, 2021)
14-24063454-A-C		not specified	Uncertain significance (Sep 16, 2021)
14-24063519-C-G		not specified	Uncertain significance (Oct 05, 2021)
14-24064248-G-A		not specified	Uncertain significance (Jun 22, 2021)
14-24064265-G-C		not specified	Uncertain significance (Jul 14, 2021)
14-24064966-G-A		not specified	Uncertain significance (Oct 05, 2021)
14-24065005-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-24065034-C-T		not specified	Uncertain significance (Oct 12, 2021)
14-24065035-G-A		not specified	Uncertain significance (Aug 12, 2021)
14-24065131-C-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CARMIL3	protein_coding	protein_coding	ENST00000342740	40	17732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-7	1.00	125650	0	98	125748	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.94	663	819	0.809	0.0000506	8804
Missense in Polyphen		145	201.03	0.72127		2206
Synonymous	0.00333	328	328	1.00	0.0000196	2815
Loss of Function	5.56	28	82.4	0.340	0.00000468	842

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000521	0.000511
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000381	0.000381
Finnish	0.000601	0.000601
European (Non-Finnish)	0.000345	0.000334
Middle Eastern	0.000381	0.000381
South Asian	0.000817	0.000817
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.15

Haploinsufficiency Scores

• pHI: 0.420
• hipred: Y
• hipred_score: 0.627
• ghis: 0.627

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Carmil3

Gene ontology

• Cellular component: cytoplasm;plasma membrane