MAP10

microtubule associated protein 10

Basic information

Region (hg38): 1:232805416-232809929

Previous symbols: [ "KIAA1383" ]

Links

ENSG00000212916 ∙ NCBI:54627 ∙ OMIM:618551 ∙ HGNC:29265 ∙ Uniprot:Q9P2G4 ∙ 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 MAP10 gene.

• not_specified (128 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019090.3. 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			113	14	2	129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	15	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP10	protein_coding	protein_coding	ENST00000418460	1	5450

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.06e-21	0.00191	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.32	632	545	1.16	0.0000256	6780
Missense in Polyphen		149	130.49	1.1419		1773
Synonymous	-3.12	281	222	1.27	0.0000107	2095
Loss of Function	0.0442	31	31.3	0.991	0.00000140	433

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis. {ECO:0000269|PubMed:23264731}.

Intolerance Scores

• rvis_EVS: 0.74
• rvis_percentile_EVS: 86.35

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.123
• ghis: 0.426

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: Map10

Gene ontology

• Biological process: cytoplasmic microtubule organization;positive regulation of cytokinesis;regulation of microtubule-based process;mitotic spindle midzone assembly;cell division
• Cellular component: centrosome;cytoplasmic microtubule;midbody;mitotic spindle pole;mitotic spindle midzone
• Molecular function: microtubule binding