The UMD-THAP1 mutations database
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Type and number of mutations

This option displays the overall content of the UMD-THAP1 database according to mutation types. You can have access to a specific group of mutations by a simple click on the title (for example to access the list of all missense mutations, click on "Missense").

 
All records Different variants Samples
181 89 175
2 1 2

 Large deletions (>=1 exon)

 0 0 0

 Large duplications (>=1 exon)

 2 1 2
179 88 173

 Small deletions (<1 exon)

 34 17 34

 Small insertions (<1 exon)

 5 4 5

 Splice sites (<10 bp from exon)

 2 2 2

 Point mutations

 112 64 109

     Nonsense

 14 5 14

     Missense

 98 59 96
0 0 0
26 1 26


Mutations by exon/intron

This option displays the phasing of the 17 exons of the THAP1 gene. You can have access to small rearrangements localized within one exon (or intron) as well as large rearrangements that include this exon (or intron) by a simple click on the exon (or intron) of interest.


Mutations by protein domains

This option displays the protein domains of the THAP1 protein. You can have access to mutations from one domain by a simple click on the corresponding domain.



I found a mutation

This option allows to search for a specific mutation in order to check if it has been previously reported.

Free search

This option gives access to a quick search and an advanced search interface.

Insertions analysis

Determines for each mutation corresponding to an insertion if repeated sequneces could be involved in the aetiology of this mutation.

Deletions analysis

Determines for each mutation corresponding to a deletion if flanking repeated sequences could be involved in the aetiology of this mutation

UMD-Predictor

The UMD-Predictor system allows to visualize all predictions of the pathogenicity of all nucleotide substitutions from the coding sequence.

Human Splicing Finder

If your mutation is not listed in this database, You can also use the HSF system to evaluate the consequences of substitutions on splicing.

 

If you want to submit a mutation, please contact G. Collod-Béroud.