Analysis of deafness, autosomal dominant 24
Analysis of deafness, autosomal dominant 24 G2D Home
GO TO:
REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: deafness, autosomal dominant 24
Method: Md
Chromosome: 4
Genomic position start-stop: 182505609-192505609
length: 10000001
Band: 4q35-qter
 LINKS

EntrezGene: [23723]

MEDLINE:

OMIM: [606282] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 10 papers related to this disease was derived from MEDLINE using the query:
deafness [tw] AND autosomal [tw] AND dominant [tw] AND 24 [tw]

MESH-C TERMS
The MeSH-C terms associated to the derived papers were collected.

Here you can see the terms ordered by the number of papers where they were found (number in brackets).

Deafness [6]
Glomerulonephritis [2]
Hearing Loss, Sensorineural [2]
Waardenburg's Syndrome [2]
Hearing Loss, Bilateral [1]
Leiomyomatosis [1]
Blindness [1]
Hematuria [1]
Long QT Syndrome [1]
Klippel-Feil Syndrome [1]
We show here only the 10 most frequent. You can also see the complete list of 11 MeSH-C terms.

Each name is linked to the corresponding term description by the NLM. The number in brackets is linked to the list of papers that contained the term. The points to the related MeSH-D terms.

 GO terms
We computed the GO terms associated to the MeSH-C terms selected for this disease.

Here you can see those with higher score of association.

0.001530 connexon channel activity (function)
0.001377 connexon complex (component)
0.001036 complement component C3b receptor activity (function)
0.000928 gap junction (component)
0.000691 complement receptor activity (function)
0.000691 translational elongation (process)
0.000447 complement activation (process)
0.000404 melanocyte differentiation (process)
0.000351 intercellular junction assembly (process)
0.000333 response to pathogenic bacteria (process)
We show here only the top 10. You can also see the complete list of 148 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to deafness, autosomal dominant 24. The points to the related MeSH-D terms.
Follow the green arrows to navigate MeSH-C / MeSH-D / GO-terms relationship derived from our analysis of the whole MEDLINE database, and used to relate the phenotype of this disease to terms of gene functionality.

OVERVIEW OF CANDIDATES IN THE REGION

The graph represents the BLASTX hits found in the region and the genes predicted or known in the region.

Legend:
BLASTX hits RefSeq genes Ensembl genes
                                                                                                               
> 1e-10 > 1e-20 > 1e-50 > 1e-80 > 1e-100 > 0
                             
                                         

Graph with GO scoring vs genomic position [PostScript graphic]

BEST SCORING 10 CANDIDATES
Here we show only the best scoring ten candidates but there are more. You can see the best scoring 100 candidates.

What is in a candidate?

CANDIDATE 1
DNA (Note) PROTEIN: [NP_005236]
R-score = 0.001956; GO-score = 0.000928
182505609 bp Chromosome 4 192505609 bp
   
   
1 aa NP_077739 894 aa

Similarity found to protein:
[1823|NP_077739] | Homo sapiens | desmocollin 1 isoform Dsc1b preproprotein | length=894 aa
GO annotation:
0.000000 calcium ion binding (function)
0.000000 protein binding (function)
0.000000 membrane fraction (component)
0.000000 cytoskeleton (component)
0.000025 integral to plasma membrane (component)
0.000928 gap junction (component)
0.000038 cell adhesion (process)
0.000060 homophilic cell adhesion (process)
0.000033 membrane (component)
BLASTX hits:
E-value 1e-18 prot=236..553 DNA=188004004..188003117 fr=894 per=91/321 [EST]
E-value 1e-15 prot=161..525 DNA=188003899..188002865 fr=894 per=103/375 [EST]
E-value 7e-13 prot=185..611 DNA=187915272..187914016 fr=894 per=106/448 [EST]
CANDIDATE 2
DNA (Note)
R-score = 0.010299; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
   
1 aa NP_609617 392 aa

Similarity found to protein:
[34720|NP_609617] | Drosophila melanogaster | CG5705-PA | length=392 aa
GO annotation:
0.000307 mitochondrion (component)
0.000000 translational termination (process)
0.000000 translation release factor activity, codon specific (function)
BLASTX hits:
E-value 8e-68 prot=58..381 DNA=190034833..190035789 fr=392 per=143/327 [EST]
CANDIDATE 3
DNA (Note)
R-score = 0.010414; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
     
1 aa NP_080784 706 aa

Similarity found to protein:
[68015|NP_080784] | Mus musculus | RIKEN cDNA 2410002K23 | length=706 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000030 receptor activity (function)
0.000000 ATP binding (function)
0.000000 extracellular space (component)
0.000307 mitochondrion (component)
0.000000 protein folding (process)
0.000000 response to unfolded protein (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 7e-31 prot=292..695 DNA=190770142..190771365 fr=706 per=103/412 [EST]
E-value 7e-29 prot=93..280 DNA=190769335..190769901 fr=706 per=80/193 [EST]
CANDIDATE 4
DNA (Note)
R-score = 0.010644; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
     
1 aa NP_524474 635 aa

Similarity found to protein:
[42852|NP_524474] | Drosophila melanogaster | Heat shock protein 68 CG5436-PA | length=635 aa
GO annotation:
0.000000 ATP binding (function)
0.000307 mitochondrion (component)
0.000000 protein folding (process)
0.000000 protein complex assembly (process)
0.000054 defense response (process)
0.000000 response to heat (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 3e-13 prot=7..131 DNA=190009972..190010340 fr=635 per=42/126 [EST]
E-value 3e-13 prot=153..379 DNA=190010381..190011007 fr=635 per=62/235 [EST]
CANDIDATE 5
DNA (Note) PROTEIN: [NP_001986]
R-score = 0.027674; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
       
1 aa NP_032007 699 aa

Similarity found to protein:
[14081|NP_032007] | Mus musculus | fatty acid Coenzyme A ligase, long chain 2 | length=699 aa
GO annotation:
0.000000 magnesium ion binding (function)
0.000000 catalytic activity (function)
0.000000 long-chain-fatty-acid-CoA ligase activity (function)
0.000307 mitochondrion (component)
0.000000 lipid metabolism (process)
0.000000 fatty acid metabolism (process)
0.000000 metabolism (process)
0.000019 integral to membrane (component)
0.000000 ligase activity (function)
BLASTX hits:
E-value 3e-27 prot=1..65 DNA=186099818..186099624 fr=699 per=59/65 [EST]
E-value 7e-18 prot=194..253 DNA=186072967..186072788 fr=699 per=46/60 [EST]
E-value 2e-17 prot=333..378 DNA=186064754..186064617 fr=699 per=44/46 [EST]
E-value 6e-17 prot=548..625 DNA=186056804..186056565 fr=699 per=53/80 [EST]
E-value 3e-15 prot=653..699 DNA=186053572..186053432 fr=699 per=41/47 [EST]
E-value 8e-15 prot=378..422 DNA=186063060..186062926 fr=699 per=39/45 [EST]
E-value 1e-13 prot=509..547 DNA=186058827..186058711 fr=699 per=36/39 [EST]
E-value 7e-18 prot=573..629 DNA=186054293..186054123 fr=699 per=37/57 [EST]
E-value 7e-18 prot=630..654 DNA=186054010..186053936 fr=699 per=17/25 [EST]
CANDIDATE 6
DNA (Note) PROTEIN: [NP_064424]
R-score = 0.029688; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
   
1 aa NP_075768 450 aa

Similarity found to protein:
[22152|NP_075768] | Mus musculus | tubulin, beta 3 | length=450 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 GTPase activity (function)
0.000025 structural molecule activity (function)
0.000000 structural constituent of cytoskeleton (function)
0.000000 GTP binding (function)
0.000000 cytoplasm (component)
0.000307 mitochondrion (component)
0.000000 microtubule (component)
0.000000 microtubule-based process (process)
0.000000 microtubule-based movement (process)
0.000022 microtubule cytoskeleton (component)
0.000000 protein complex (component)
0.000000 protein polymerization (process)
BLASTX hits:
E-value 1e-155 prot=93..431 DNA=191279856..191278843 fr=450 per=290/339 [EST]
E-value 3e-19 prot=19..91 DNA=191280860..191280564 fr=450 per=54/99 [EST]
CANDIDATE 7
DNA (Note)
R-score = 0.029803; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
   
1 aa NP_004285 445 aa

Similarity found to protein:
[9617|NP_004285] | Homo sapiens | mitochondrial translational release factor 1 | length=445 aa
GO annotation:
0.000307 mitochondrion (component)
0.000022 protein biosynthesis (process)
0.000000 regulation of translational termination (process)
0.000000 translation release factor activity, codon specific (function)
BLASTX hits:
E-value 4e-82 prot=116..439 DNA=190034845..190035789 fr=445 per=158/325 [EST]
CANDIDATE 8
DNA (Note)
R-score = 0.037052; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
    
1 aa NP_524356 651 aa

Similarity found to protein:
[41840|NP_524356] | Drosophila melanogaster | Heat shock protein cognate 4 CG4264-PF | length=651 aa
GO annotation:
0.000000 embryonic development (sensu Insecta) (process)
0.000000 ATP binding (function)
0.000000 nucleus (component)
0.000307 mitochondrion (component)
0.000000 protein folding (process)
0.000000 protein complex assembly (process)
0.000054 defense response (process)
0.000000 neurotransmitter secretion (process)
0.000013 nervous system development (process)
0.000017 axon guidance (process)
0.000000 axonal fasciculation (process)
0.000000 response to heat (process)
0.000000 vesicle-mediated transport (process)
0.000000 ATPase activity (function)
0.000000 protein refolding (process)
0.000000 synaptic vesicle transport (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 5e-15 prot=2..134 DNA=190009948..190010340 fr=651 per=43/134 [EST]
E-value 5e-15 prot=156..376 DNA=190010381..190010992 fr=651 per=66/232 [EST]
CANDIDATE 9
DNA (Note)
R-score = 0.040159; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
  
1 aa NP_032328 724 aa

Similarity found to protein:
[15516|NP_032328] | Mus musculus | heat shock protein 1, beta | length=724 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 protein binding (function)
0.000000 ATP binding (function)
0.000307 mitochondrion (component)
0.000000 protein folding (process)
0.000000 response to unfolded protein (process)
0.000000 response to heat (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 0.0 prot=284..722 DNA=190770154..190771491 fr=724 per=315/446 [EST]
E-value 0.0 prot=18..208 DNA=190769335..190769907 fr=724 per=157/191 [EST]
E-value 0.0 prot=208..284 DNA=190769903..190770157 fr=724 per=37/85 [EST]
CANDIDATE 10
DNA (Note)
R-score = 0.042115; GO-score = 0.000307
182505609 bp Chromosome 4 192505609 bp
   
     
1 aa NP_057376 704 aa

Similarity found to protein:
[10131|NP_057376] | Homo sapiens | tumor necrosis factor type 1 receptor associated protein | length=704 aa
GO annotation:
0.000000 biological process unknown (process)
0.000000 nucleotide binding (function)
0.000000 tumor necrosis factor receptor binding (function)
0.000000 ATP binding (function)
0.000307 mitochondrion (component)
0.000000 protein folding (process)
0.000000 cellular component unknown (component)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 4e-30 prot=290..693 DNA=190770142..190771365 fr=704 per=103/412 [EST]
E-value 4e-29 prot=91..278 DNA=190769335..190769901 fr=704 per=80/193 [EST]