Analysis of albinism-deafness syndrome
Analysis of albinism-deafness syndrome G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: albinism-deafness syndrome
Chromosome: X
Genomic position start-stop: 120600000-137700000
length: 17100001
Band: Xq25-q26
 LINKS

EntrezGene: [122]

MEDLINE:

OMIM: [300700] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 4 papers related to this disease was derived from MEDLINE using the query:
albinism-deafness [tw] AND syndrome [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 [4]
Syndrome [4]
Albinism [3]
Waardenburg's Syndrome [2]
Albinism, Oculocutaneous [1]
Pigmentation Disorders [1]

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.

0.008434 melanin biosynthesis from tyrosine (process)
0.008434 dopamine biosynthesis from tyrosine (process)
0.008434 tyrosine 3-monooxygenase activity (function)
0.005177 neuropeptide receptor activity (function)
0.004217 eye pigment biosynthesis (process)
0.004217 aromatic amino acid family metabolism (process)
0.002811 Golgi-associated vesicle (component)
0.002811 catecholamine metabolism (process)
0.001761 connexon channel activity (function)
0.001585 connexon complex (component)
We show here only the top 10. You can also see the complete list of 151 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to albinism-deafness syndrome. 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)
R-score = 0.003682; GO-score = 0.002811
120600000 bp Chromosome X 137700000 bp
   
      
1 aa NP_001578 893 aa

Similarity found to protein:
[4952|NP_001578] | Homo sapiens | phosphatidylinositol polyphosphate 5-phosphotase isoform b | length=893 aa
GO annotation:
0.000000 Golgi membrane (component)
0.000000 phosphoinositide 5-phosphatase activity (function)
0.000000 Golgi stack (component)
0.002811 Golgi-associated vesicle (component)
0.000000 lipid metabolism (process)
0.000000 hydrolase activity (function)
BLASTX hits:
E-value 9e-37 prot=617..715 DNA=128429377..128429694 fr=893 per=85/106 [EST]
E-value 1e-46 prot=353..418 DNA=128415711..128415908 fr=893 per=64/66 [EST]
E-value 4e-26 prot=571..628 DNA=128429006..128429179 fr=893 per=56/58 [EST]
E-value 6e-40 prot=188..241 DNA=128411953..128412114 fr=893 per=54/54 [EST]
E-value 5e-20 prot=489..535 DNA=128422374..128422514 fr=893 per=47/47 [EST]
E-value 5e-16 prot=774..816 DNA=128442000..128442128 fr=893 per=43/43 [EST]
E-value 1e-14 prot=234..275 DNA=128413639..128413764 fr=893 per=36/42 [EST]
E-value 1e-13 prot=852..893 DNA=128443254..128443379 fr=893 per=41/42 [EST]
E-value 1e-13 prot=706..744 DNA=128440114..128440230 fr=893 per=39/39 [EST]
E-value 4e-13 prot=272..317 DNA=128414280..128414417 fr=893 per=39/46 [EST]
E-value 6e-40 prot=151..187 DNA=128411756..128411866 fr=893 per=37/37 [EST]
E-value 7e-13 prot=810..862 DNA=128442939..128443106 fr=893 per=44/56 [EST]
E-value 3e-12 prot=416..454 DNA=128418885..128419001 fr=893 per=37/39 [EST]
E-value 5e-12 prot=453..488 DNA=128420366..128420473 fr=893 per=36/36 [EST]
E-value 1e-46 prot=314..352 DNA=128415496..128415612 fr=893 per=39/39 [EST]
E-value 5e-12 prot=81..121 DNA=128410439..128410561 fr=893 per=37/41 [EST]
E-value 7e-11 prot=535..571 DNA=128428252..128428362 fr=893 per=37/37 [EST]
CANDIDATE 2
DNA (Note)
R-score = 0.006559; GO-score = 0.001412
120600000 bp Chromosome X 137700000 bp
   
  
1 aa NP_037014 363 aa

Similarity found to protein:
[25354|NP_037014] | Rattus norvegicus | somatostatin receptor 5 | length=363 aa
GO annotation:
0.000000 rhodopsin-like receptor activity (function)
0.000000 receptor activity (function)
0.000141 G-protein coupled receptor activity (function)
0.000000 somatostatin receptor activity (function)
0.000000 integral to plasma membrane (component)
0.000055 G-protein coupled receptor protein signaling pathway (process)
0.000000 G-protein signaling, coupled to cyclic nucleotide second messenger (process)
0.001412 G-protein signaling, adenylate cyclase inhibiting pathway (process)
0.000000 negative regulation of cell proliferation (process)
0.000000 integral to membrane (component)
BLASTX hits:
E-value 8e-15 prot=3..246 DNA=135832618..135831890 fr=363 per=64/249 [EST]
CANDIDATE 3
DNA (Note)
R-score = 0.008112; GO-score = 0.000914
120600000 bp Chromosome X 137700000 bp
   
     
1 aa NP_694593 482 aa

Similarity found to protein:
[2534|NP_694593] | Homo sapiens | protein-tyrosine kinase fyn isoform c | length=482 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000000 protein serine/threonine kinase activity (function)
0.000000 protein-tyrosine kinase activity (function)
0.000000 non-membrane spanning protein tyrosine kinase activity (function)
0.000000 protein binding (function)
0.000000 ATP binding (function)
0.000000 protein amino acid phosphorylation (process)
0.000000 calcium ion transport (process)
0.000000 intracellular signaling cascade (process)
0.000000 protein kinase cascade (process)
0.000000 learning (process)
0.000914 feeding behavior (process)
0.000000 cellular component unknown (component)
0.000000 transferase activity (function)
BLASTX hits:
E-value 5e-14 prot=256..403 DNA=122456577..122457005 fr=482 per=52/149 [EST]
E-value 5e-14 prot=411..440 DNA=122457028..122457117 fr=482 per=15/30 [EST]
CANDIDATE 4
DNA (Note)
R-score = 0.008860; GO-score = 0.000914
120600000 bp Chromosome X 137700000 bp
   
   
1 aa NP_599146 894 aa

Similarity found to protein:
[44817|NP_599146] | Drosophila melanogaster | for-P4 CG10033-PE | length=894 aa
GO annotation:
0.000000 protein serine/threonine kinase activity (function)
0.000000 cyclic nucleotide-dependent protein kinase activity (function)
0.000000 cGMP-dependent protein kinase activity (function)
0.000000 receptor signaling protein serine/threonine kinase activity (function)
0.000000 ATP binding (function)
0.000000 plasma membrane (component)
0.000000 cAMP-dependent protein kinase complex (component)
0.000000 protein amino acid phosphorylation (process)
0.000094 muscle contraction (process)
0.000000 cytoskeleton organization and biogenesis (process)
0.000000 intracellular signaling cascade (process)
0.000914 feeding behavior (process)
0.000000 regulation of heart contraction (process)
0.000000 larval locomotory behavior (process)
0.000000 cAMP-dependent protein kinase regulator activity (function)
0.000000 transmission of nerve impulse (process)
0.000000 larval feeding behavior (process)
BLASTX hits:
E-value 2e-17 prot=652..841 DNA=135097637..135097089 fr=894 per=68/191 [EST]
CANDIDATE 5
DNA (Note)
R-score = 0.029457; GO-score = 0.000698
120600000 bp Chromosome X 137700000 bp
   
   
1 aa NP_031930 442 aa

Similarity found to protein:
[13618|NP_031930] | Mus musculus | endothelin receptor type B | length=442 aa
GO annotation:
0.000000 rhodopsin-like receptor activity (function)
0.000000 endothelin-B receptor activity (function)
0.000000 neural crest cell migration (process)
0.000000 signal transducer activity (function)
0.000000 receptor activity (function)
0.000141 G-protein coupled receptor activity (function)
0.000291 endothelin receptor activity (function)
0.000000 neuropeptide Y receptor activity (function)
0.000000 protein binding (function)
0.000000 extracellular space (component)
0.000218 regulation of pH (process)
0.000000 signal transduction (process)
0.000055 G-protein coupled receptor protein signaling pathway (process)
0.000097 peripheral nervous system development (process)
0.000000 posterior midgut development (process)
0.000000 blood pressure regulation (process)
0.000000 integral to membrane (component)
0.000698 melanocyte differentiation (process)
0.000000 pigmentation during development (process)
BLASTX hits:
E-value 1e-13 prot=106..199 DNA=135289197..135289478 fr=442 per=40/94 [EST]
CANDIDATE 6
DNA (Note)
R-score = 0.029515; GO-score = 0.000698
120600000 bp Chromosome X 137700000 bp
   
   
1 aa NP_059029 442 aa

Similarity found to protein:
[50672|NP_059029] | Rattus norvegicus | endothelin receptor type B | length=442 aa
GO annotation:
0.000000 rhodopsin-like receptor activity (function)
0.000000 endothelin-B receptor activity (function)
0.000000 neural crest cell migration (process)
0.000000 receptor activity (function)
0.000141 G-protein coupled receptor activity (function)
0.000291 endothelin receptor activity (function)
0.000000 neuropeptide Y receptor activity (function)
0.000000 protein binding (function)
0.000000 extracellular space (component)
0.000000 membrane fraction (component)
0.000000 integral to plasma membrane (component)
0.000218 regulation of pH (process)
0.000055 G-protein coupled receptor protein signaling pathway (process)
0.000092 negative regulation of adenylate cyclase activity (process)
0.000065 G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) (process)
0.000409 elevation of cytosolic calcium ion concentration (process)
0.000000 nervous system development (process)
0.000097 peripheral nervous system development (process)
0.000000 posterior midgut development (process)
0.000090 sensory perception of sound (process)
0.000000 blood pressure regulation (process)
0.000000 integral to membrane (component)
0.000249 cell migration (process)
0.000698 melanocyte differentiation (process)
BLASTX hits:
E-value 3e-13 prot=106..199 DNA=135289197..135289478 fr=442 per=40/94 [EST]
CANDIDATE 7
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.035901; GO-score = 0.000409
120600000 bp Chromosome X 137700000 bp
     
   
1 aa NP_036678 446 aa

Similarity found to protein:
[24316|NP_036678] | Rattus norvegicus | dopamine receptor 1A | length=446 aa
GO annotation:

0.000000 rhodopsin-like receptor activity (function)
0.000000 dopamine D1 receptor activity (function)
0.000141 G-protein coupled receptor activity (function)
0.000000 dopamine receptor activity (function)
0.000000 cell (component)
0.000000 membrane fraction (component)
0.000000 integral to plasma membrane (component)
0.000055 G-protein coupled receptor protein signaling pathway (process)
0.000000 G-protein signaling, coupled to cyclic nucleotide second messenger (process)
0.000000 adenylate cyclase activation (process)
0.000000 dopamine receptor, adenylate cyclase activating pathway (process)
0.000409 elevation of cytosolic calcium ion concentration (process)
0.000000 dopamine receptor signaling pathway (process)
0.000000 synaptic transmission (process)
0.000000 nervous system development (process)
0.000000 behavior (process)
0.000000 locomotory behavior (process)
0.000000 integral to membrane (component)
0.000000 transmission of nerve impulse (process)
0.000000 response to drug (process)
0.000000 eating behavior (process)
BLASTX hits:
E-value 2e-12 prot=16..333 DNA=129238503..129237664 fr=446 per=80/319 [EST] [P]
E-value 2e-16 prot=23..241 DNA=135832510..135831881 fr=446 per=66/224 [EST] [P]
CANDIDATE 8
DNA (Note)
R-score = 0.037109; GO-score = 0.000409
120600000 bp Chromosome X 137700000 bp
   
   
1 aa NP_058687 515 aa

Similarity found to protein:
[24173|NP_058687] | Rattus norvegicus | adrenergic receptor, alpha 1b | length=515 aa
GO annotation:
0.000000 rhodopsin-like receptor activity (function)
0.000000 receptor activity (function)
0.000141 G-protein coupled receptor activity (function)
0.000000 adrenoceptor activity (function)
0.000000 alpha1-adrenergic receptor activity (function)
0.000000 neuropeptide Y receptor activity (function)
0.000000 integral to plasma membrane (component)
0.000055 G-protein coupled receptor protein signaling pathway (process)
0.000000 G-protein signaling, coupled to cAMP nucleotide second messenger (process)
0.000409 elevation of cytosolic calcium ion concentration (process)
0.000000 protein kinase cascade (process)
0.000069 cell-cell signaling (process)
0.000011 development (process)
0.000000 cell proliferation (process)
0.000000 integral to membrane (component)
BLASTX hits:
E-value 9e-19 prot=32..232 DNA=135832564..135831941 fr=515 per=63/208 [EST]
CANDIDATE 9
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.037455; GO-score = 0.000409
120600000 bp Chromosome X 137700000 bp
     
   
1 aa NP_000785 446 aa

Similarity found to protein:
[1812|NP_000785] | Homo sapiens | dopamine receptor D1 | length=446 aa
GO annotation:

0.000000 rhodopsin-like receptor activity (function)
0.000000 receptor activity (function)
0.000000 dopamine receptor activity (function)
0.000000 cell (component)
0.000000 plasma membrane (component)
0.000000 integral to plasma membrane (component)
0.000000 signal transduction (process)
0.000000 G-protein signaling, coupled to cyclic nucleotide second messenger (process)
0.000000 dopamine receptor, adenylate cyclase activating pathway (process)
0.000409 elevation of cytosolic calcium ion concentration (process)
0.000000 synaptic transmission (process)
0.000000 nervous system development (process)
BLASTX hits:
E-value 5e-12 prot=53..333 DNA=129238407..129237664 fr=446 per=70/282 [EST] [P]
E-value 1e-16 prot=24..241 DNA=135832510..135831881 fr=446 per=65/221 [EST] [P]
CANDIDATE 10
DNA (Note)
R-score = 0.041482; GO-score = 0.000354
120600000 bp Chromosome X 137700000 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)
0.000354 mitochondrion (component)
0.000000 protein folding (process)
0.000000 protein complex assembly (process)
0.000000 defense response (process)
0.000000 response to heat (process)
0.000000 unfolded protein binding (function)
BLASTX hits:
E-value 2e-45 prot=4..120 DNA=123059041..123058691 fr=635 per=72/117 [EST]
E-value 2e-45 prot=121..170 DNA=123058691..123058542 fr=635 per=30/50 [EST]