MAP1S

microtubule associated protein 1S

Basic information

Region (hg38): 19:17719242-17734513

Previous symbols: [ "C19orf5", "VCY2IP1", "BPY2IP1" ]

Links

ENSG00000130479

∙ NCBI:55201 ∙ OMIM:607573 ∙ HGNC:15715 ∙ Uniprot:Q66K74 ∙ 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 MAP1S gene.

not_specified (191 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP1S gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018174.6. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			6 clinvar		1 clinvar	7
missense			182 clinvar	13 clinvar		195
nonsense			2 clinvar			2
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	192	13	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP1S	protein_coding	protein_coding	ENST00000324096	7	15275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.420	0.580	125722	0	24	125746	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.535	633	672	0.942	0.0000482	6469
Missense in Polyphen		180	253.96	0.70878		2710
Synonymous	-2.27	374	322	1.16	0.0000250	2407
Loss of Function	3.76	6	27.1	0.221	0.00000150	310

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000187	0.000182
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000480	0.0000462
European (Non-Finnish)	0.000119	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000137	0.000131
Other	0.000335	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity). {ECO:0000250, ECO:0000269|PubMed:15899810, ECO:0000269|PubMed:17234756}.;

Recessive Scores

pRec: 0.129

Haploinsufficiency Scores

pHI: 0.150
hipred: Y
hipred_score: 0.594
ghis: 0.475

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.675

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Map1s
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); cellular phenotype; muscle phenotype;

Gene ontology

Biological process: microtubule cytoskeleton organization;microtubule bundle formation;DNA metabolic process;autophagy;apoptotic process;nervous system development;axonogenesis;brain development;regulation of chromatin disassembly;dendrite development;regulation of microtubule depolymerization;mitochondrion transport along microtubule;neuron projection morphogenesis
Cellular component: nucleus;nucleolus;spindle;cytosol;microtubule;microtubule associated complex;cell junction;dendrite;cell projection;neuronal cell body;synapse;perinuclear region of cytoplasm
Molecular function: DNA binding;actin binding;deoxyribonuclease activity;protein binding;microtubule binding;tubulin binding;identical protein binding;beta-tubulin binding;actin filament binding