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Here you can see the gene and the variant being analyzed.

We summarize a large amount of clinical data on this gene here. Links are added where available to source information.

Prediction information is summarized here, the percentage shows the likelihood that the variant is pathogenic.

Agreement is a measure (out of 5 stars) of how much our predictors agree between each other. When predictors agree, the prediction is more likely to be correct.

Data quality is a measure (out of 5 stars) of how good the underlying data for this prediction is. This is an assessment of the depth of our alignments and the number of structures available, among other factors.

This table shows literature for this exact position and protein, if it is available.

This table shows literature for this position in homologous proteins, if it is available.

This is a description of our prediction.

This plot illustrates the agreement between different classifiers. If the prediction distributions align on one side it indicates increased certainty in the prediction.

This describes the data quality for this position.

Here are the four factors that contributed most to the prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows all the factors for prediction. Factors that contributed to a benign prediction are colored blue, pathogenic factors are colored red.

This plot shows the conservation on this position.

Here the conservation statistics are described.

This is an interactive structure display. Feel free to play with it after the tour!

This is a list of interactions we found for this position.

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Summary

HDAC8 - ENST00000373573

Gene HDAC8 - ENSG00000147099 | ENSP00000362674 | ENST00000373573
Ensembl | RefSeq | UniProt
Location GRCh38 X:72329516-72573199 Ensembl UCSC
Description histone deacetylase 8

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. {ECO:0000269|PubMed:10748112, ECO:0000269|PubMed:10922473, ECO:0000269|PubMed:10926844, ECO:0000269|PubMed:14701748, ECO:0000269|PubMed:22885700}.;

Condition(s)
  • Cornelia de Lange syndrome 5 (CDLS5)

    A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM



  • Wilson-Turner X-linked mental retardation syndrome (WTS)

    A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males.
    The disease is caused by mutations affecting the gene represented in this entry. OMIM



Sequence
MEEPEEPADS
10
GQSLVPVYIY
20
SPEYVSMCDS
30
LAKIPKRASM
40
VHSLIEAYAL
50
HKQMRIVKPK
60
VASMEEMATF
70
HTDAYLQHLQ
80
KVSQEGDDDH
90
PDSIEYGLGY
100
DCPATEGIFD
110
YAAAIGGATI
120
TAAQCLIDGM
130
CKVAINWSGG
140
WHHAKKDEAS
150
GFCYLNDAVL
160
GILRLRRKFE
170
RILYVDLDLH
180
HGDGVEDAFS
190
FTSKVMTVSL
200
HKFSPGFFPG
210
TGDVSDVGLG
220
KGRYYSVNVP
230
IQDGIQDEKY
240
YQICESVLKE
250
VYQAFNPKAV
260
VLQLGADTIA
270
GDPMCSFNMT
280
PVGIGKCLKY
290
ILQWQLATLI
300
LGGGGYNLAN
310
TARCWTYLTG
320
VILGKTLSSE
330
IPDHEFFTAY
340
GPDYVLEITP
350
SCRPDRNEPH
360
RIQQILNYIK
370
GNLKHVV
377
PDB and PDB position 1t64,3f07,4qa4 ~> 201 (Explore)
gnomAD This variant is not present in gnomAD .
Pathogenicity
97%
Agreement: Data quality:
Literature for His201 in HDAC8 Not present
Literature for similar variants in homologous proteins 19 papers describing similar variants in proteins homologous to HDAC8 are available. (Explore)
Older predictions

Literature

Helix prediction details

Prediction: pathogenic 97%

The His201Tyr mutation in the protein has been classified as pathogenic by our ensemble classifier system, with very high confidence. There is a 98% agreement between all subclassifiers.

Data quality

Data quality for this region is considered good. This means that enhanced, deep alignments are present and there is a variety of data for the algorithm to predict from.

Prediction factors

External models have estimated which sets of features contributed primarily to the classification. These sets of features are listed here.

Primary contributing factors

  • Residue differences point towards pathogenic
  • Position features point towards pathogenic
  • Protein evolutionary pressure points towards pathogenic
  • Gene vulnerability points towards pathogenic

Evolutionary pressure

Conservation

The wildtype was observed in 90.02% of the 17773 sequences analyzed. The variant type was observed in < 1% of observed sequences.


This residue is involved in 1 CationPi interaction, 1 Contact interaction, 4 Hydrogen Bonds, 3 Hydrophobic interactions and 1 PiPi interaction.

Interaction statistics were calculated using advanced molecular optimization techniques and may not be visible in the plain PDB file. Please download the YASARA scene to explore the interactions in more detail.