BOD1L1

biorientation of chromosomes in cell division 1 like 1

Basic information

Region (hg38): 4:13568737-13627725

Previous symbols: [ "FAM44A", "BOD1L" ]

Links

ENSG00000038219 ∙ NCBI:259282 ∙ OMIM:616746 ∙ HGNC:31792 ∙ Uniprot:Q8NFC6 ∙ 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 BOD1L1 gene.

• Inborn genetic diseases (142 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOD1L1 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				2		2
missense			130	16		146
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	131	18	0

Variants in BOD1L1

This is a list of pathogenic ClinVar variants found in the BOD1L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-13570066-C-T		not specified	Uncertain significance (May 27, 2022)
4-13570096-C-T		not specified	Uncertain significance (May 08, 2023)
4-13576933-C-A		not specified	Uncertain significance (Apr 05, 2023)
4-13576948-A-C		not specified	Likely benign (Sep 22, 2023)
4-13576967-C-A		not specified	Uncertain significance (Sep 13, 2023)
4-13577429-C-T		not specified	Uncertain significance (Jan 22, 2024)
4-13577453-C-T		not specified	Uncertain significance (Jan 20, 2023)
4-13577480-C-T		not specified	Uncertain significance (Sep 17, 2021)
4-13577616-T-G		not specified	Uncertain significance (Nov 18, 2022)
4-13577620-T-C		not specified	Uncertain significance (Dec 01, 2022)
4-13582275-G-C		not specified	Uncertain significance (Dec 17, 2021)
4-13582287-T-C		not specified	Likely benign (Sep 07, 2022)
4-13582305-A-G		not specified	Uncertain significance (Nov 08, 2022)
4-13582310-T-C		not specified	Uncertain significance (Jul 09, 2021)
4-13582655-T-C		not specified	Uncertain significance (May 18, 2023)
4-13582676-T-A		not specified	Uncertain significance (Aug 13, 2021)
4-13582678-G-A		not specified	Uncertain significance (Feb 27, 2023)
4-13582705-G-T		not specified	Uncertain significance (Apr 13, 2022)
4-13582720-T-A		not specified	Uncertain significance (Feb 05, 2024)
4-13586415-G-A		not specified	Uncertain significance (Nov 08, 2022)
4-13587725-T-A		not specified	Uncertain significance (Jan 11, 2023)
4-13587758-T-C		not specified	Uncertain significance (Jul 26, 2022)
4-13588756-A-G			Likely benign (Jan 01, 2023)
4-13590412-A-G		not specified	Uncertain significance (Jan 17, 2023)
4-13597127-G-C		not specified	Uncertain significance (Dec 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BOD1L1	protein_coding	protein_coding	ENST00000040738	26	58986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000146	125559	0	34	125593	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.666	1425	1.50e+3	0.952	0.0000751	20072
Missense in Polyphen		316	401.19	0.78765		5651
Synonymous	-0.518	557	542	1.03	0.0000295	5783
Loss of Function	7.55	16	95.7	0.167	0.00000479	1545

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000238	0.000238
Ashkenazi Jewish	0.000301	0.000298
East Asian	0.000109	0.000109
Finnish	0.0000953	0.0000925
European (Non-Finnish)	0.000126	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.000346	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2- dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705). Does not regulate spindle orientation (PubMed:26166705). {ECO:0000269|PubMed:26166705}.

Recessive Scores

• pRec: 0.0892

Intolerance Scores

• rvis_EVS: -0.63
• rvis_percentile_EVS: 16.79

Haploinsufficiency Scores

• pHI: 0.446
• hipred: N
• hipred_score: 0.422
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bod1l

Gene ontology

• Biological process: DNA repair;cellular response to DNA damage stimulus;replication fork processing
• Cellular component: nucleoplasm;chromosome