ANKS1B

ankyrin repeat and sterile alpha motif domain containing 1B, the group of Ankyrin repeat domain containing|Sterile alpha motif domain containing

Basic information

Region (hg38): 12:98726457-99984936

Links

ENSG00000185046 ∙ NCBI:56899 ∙ OMIM:607815 ∙ HGNC:24600 ∙ Uniprot:Q7Z6G8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AD
• complex neurodevelopmental disorder (Moderate), mode of inheritance: AD
• neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKS1B gene.

• not_specified (120 variants)
• not_provided (25 variants)
• ANKS1B-related_disorder (2 variants)
• ANKS1B-related_neurodevelopmental_disorder (1 variants)
• Normal_pregnancy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKS1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001352186.2. 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				6	4	10
missense			91	8	2	101
nonsense			2			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1	1			2
Total	0	1	94	14	6

Highest pathogenic variant AF is 7.1776e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKS1B	protein_coding	protein_coding	ENST00000547776	26	1258198

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000218	124624	0	11	124635	0.0000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	432	642	0.673	0.0000320	8139
Missense in Polyphen		74	193.06	0.38329		2446
Synonymous	0.292	239	245	0.976	0.0000134	2416
Loss of Function	6.41	7	61.1	0.115	0.00000317	774

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.000200	0.000199
East Asian	0.00	0.00
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.0000277	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; FUNCTION: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.
• Pathway: Ectoderm Differentiation (Consensus)

Recessive Scores

• pRec: 0.210

Intolerance Scores

• loftool: 0.269
• rvis_EVS: -1.22
• rvis_percentile_EVS: 5.67

Haploinsufficiency Scores

• pHI: 0.212
• hipred: Y
• hipred_score: 0.508
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.595

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Anks1b
• Phenotype: skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of synaptic plasticity by receptor localization to synapse
• Cellular component: cytosol;plasma membrane;postsynaptic density;Cajal body;cell junction;dendritic spine;intracellular membrane-bounded organelle;postsynaptic membrane
• Molecular function: ephrin receptor binding