HOTTIP

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

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	4 clinvar	2 clinvar	54 clinvar	32 clinvar	10 clinvar	102
Total	4	3	54	32	10

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;