ANHX

anomalous homeobox

Basic information

Region (hg38): 12:133218311-133235877

Links

ENSG00000227059 ∙ NCBI:647589 ∙ ∙ HGNC:40024 ∙ Uniprot:E9PGG2 ∙ 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 ANHX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANHX 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			24	4	1	29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	4	1

Variants in ANHX

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

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

Position	Type	Phenotype	Significance	ClinVar
12-133218961-G-C		not specified	Uncertain significance (May 09, 2023)
12-133219329-C-A		not specified	Uncertain significance (Oct 25, 2023)
12-133219330-C-A		not specified	Uncertain significance (Jan 04, 2024)
12-133219330-C-T		not specified	Uncertain significance (May 09, 2024)
12-133219332-G-C		not specified	Uncertain significance (Feb 13, 2024)
12-133221215-G-A		not specified	Uncertain significance (Apr 27, 2024)
12-133221215-G-C		not specified	Uncertain significance (Apr 07, 2023)
12-133221268-C-T		not specified	Likely benign (Apr 29, 2024)
12-133221322-T-G		not specified	Uncertain significance (Apr 27, 2023)
12-133226322-C-G		not specified	Uncertain significance (Mar 06, 2023)
12-133226363-G-A		not specified	Uncertain significance (Jun 06, 2023)
12-133226432-C-T		not specified	Uncertain significance (Mar 28, 2024)
12-133226433-G-A		not specified	Uncertain significance (Jan 26, 2022)
12-133226965-G-C			Benign (Apr 19, 2019)
12-133226974-C-T		not specified	Likely benign (Sep 15, 2021)
12-133227016-C-T		not specified	Uncertain significance (Jun 27, 2022)
12-133227059-T-C		not specified	Uncertain significance (Dec 06, 2022)
12-133227082-C-T		not specified	Uncertain significance (Jul 05, 2023)
12-133227133-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-133227849-T-C		not specified	Likely benign (Dec 20, 2021)
12-133227906-C-T		not specified	Uncertain significance (Dec 12, 2023)
12-133227940-G-C		not specified	Uncertain significance (Mar 20, 2023)
12-133231542-C-A		not specified	Uncertain significance (Aug 12, 2021)
12-133231560-C-T		not specified	Uncertain significance (Dec 18, 2023)
12-133231583-C-T		not specified	Likely benign (May 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANHX	protein_coding	protein_coding	ENST00000545940	8	17784

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.226	0.772	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	168	216	0.776	0.0000132	2418
Missense in Polyphen		20	35.475	0.56379		421
Synonymous	1.45	73	90.6	0.806	0.00000528	789
Loss of Function	2.77	4	15.9	0.252	6.80e-7	184

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

Haploinsufficiency Scores

• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;anatomical structure development
• Cellular component: nucleus;transcription factor complex
• Molecular function: transcription regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific