GeneBe

HOTTIP

HOXA distal transcript antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 7:27198575-27207259

Previous symbols: [ "NCRNA00213" ]

Links

ENSG00000243766 ∙ NCBI:100316868 ∙ OMIM:614060 ∙ HGNC:37461 ∙ ∙ ∙ 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 HOTTIP gene.

  • not provided (70 variants)
  • Inborn genetic diseases (24 variants)
  • Hand-foot-genital syndrome (7 variants)
  • Guttmacher syndrome;Hand-foot-genital syndrome (7 variants)
  • not specified (5 variants)
  • Hand-foot-genital syndrome;Guttmacher syndrome (3 variants)
  • HOXA13-related condition (1 variants)
  • - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOTTIP 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
splice region
0
non coding
4
clinvar
2
clinvar
54
clinvar
32
clinvar
10
clinvar
 102
Total 4 3 54 32 10

Variants in HOTTIP

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

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

Position Type Phenotype Significance ClinVar
7-27199072-C-G Benign (Nov 12, 2018)1295094
7-27199143-G-A Benign (Apr 17, 2023)2959307
7-27199157-G-C Uncertain significance (May 22, 2023)1497961
7-27199181-G-A Benign (Nov 13, 2023)1643421
7-27199191-G-T Inborn genetic diseases Uncertain significance (Jun 07, 2023)2524905
7-27199194-T-G Hand-foot-genital syndrome Uncertain significance (-)3234927
7-27199207-A-G Inborn genetic diseases Uncertain significance (Nov 03, 2023)3106558
7-27199208-G-A Likely benign (Jun 13, 2022)1899328
7-27199209-T-G Hand-foot-genital syndrome Likely pathogenic (Oct 03, 2022)1801485
7-27199219-C-T Guttmacher syndrome;Hand-foot-genital syndrome Likely benign (Mar 02, 2024)3594498
7-27199228-C-T Uncertain significance (Dec 30, 2021)1985046
7-27199229-G-A HOXA13-related disorder Likely benign (Jun 21, 2019)3033277
7-27199230-T-C Inborn genetic diseases • Hand-foot-genital syndrome;Guttmacher syndrome Uncertain significance (Dec 27, 2023)2325454
7-27199239-G-A Guttmacher syndrome;Hand-foot-genital syndrome Uncertain significance (Apr 28, 2024)3594499
7-27199241-C-T Guttmacher syndrome;Hand-foot-genital syndrome Likely pathogenic (Apr 10, 2024)3594500
7-27199280-G-T Inborn genetic diseases Uncertain significance (Nov 24, 2024)3526237
7-27199294-C-A Inborn genetic diseases Uncertain significance (Mar 01, 2023)2491946
7-27199294-C-T Uncertain significance (May 14, 2022)2177486
7-27199336-C-T Guttmacher syndrome;Hand-foot-genital syndrome Uncertain significance (Mar 13, 2024)3594501
7-27199336-C-CA Hand-foot-genital syndrome Likely pathogenic (May 21, 2020)1805747
7-27199348-G-A Guttmacher syndrome;Hand-foot-genital syndrome Likely pathogenic (-)3382721
7-27199378-C-T Guttmacher syndrome;Hand-foot-genital syndrome Uncertain significance (May 08, 2024)3594502
7-27199395-A-G Guttmacher syndrome;Hand-foot-genital syndrome Uncertain significance (Jan 22, 2024)3594503
7-27199400-C-T Likely benign (Aug 09, 2022)1636847
7-27199401-T-C Guttmacher syndrome;Hand-foot-genital syndrome Uncertain significance (Jun 15, 2024)3594504

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

Gene name
Hottip
Phenotype
muscle phenotype; normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; limbs/digits/tail phenotype;