Analysis of Aortic aneurysm, familial thoracic 2
Analysis of Aortic aneurysm, familial thoracic 2 G2D Home
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REASONS FOR ASSOCIATION OVERVIEW OF CANDIDATES BEST 10 CANDIDATES BEST 100 CANDIDATES

CHROMOSOMAL REGION
Disease mapped: Aortic aneurysm, familial thoracic 2
Method: Md
Chromosome: 5
Genomic position start-stop: 66700000-91900000
length: 25200001
Band: 5q13-q14
 LINKS

EntrezGene: [252843]

MEDLINE:

OMIM: [607087] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 4 papers related to this disease was derived from MEDLINE using the query:
Aortic [tw] AND aneurysm [tw] AND familial [tw] AND thoracic [tw] AND 2 [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).

Aortic Aneurysm, Thoracic [4]
Aneurysm, Dissecting [3]
Marfan Syndrome [2]

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.

0.003713 actin cytoskeleton (component)
0.002314 actin binding (function)
0.001373 actin cytoskeleton reorganization (process)
0.001081 F-actin capping protein complex (component)
0.000999 cell motility (process)
0.000827 actin filament organization (process)
0.000765 Arp2/3 protein complex (component)
0.000728 cytoskeleton (component)
0.000664 actin bundling activity (function)
We show here only the top 10. You can also see the complete list of 158 GO terms.

Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Aortic aneurysm, familial thoracic 2. 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)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.000058; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
  
1 aa NP_033740 393 aa

Similarity found to protein:
[11468|NP_033740] | Mus musculus | actin, gamma 2, smooth muscle, enteric | length=393 aa
GO annotation:

0.000000 nucleotide binding (function)
0.000000 motor activity (function)
0.000032 structural molecule activity (function)
0.000501 structural constituent of cytoskeleton (function)
0.000104 protein binding (function)
0.000000 ATP binding (function)
0.000728 cytoskeleton (component)
0.000209 actin filament (component)
0.000595 cytoskeleton organization and biogenesis (process)
0.000125 muscle development (process)
0.000000 structural constituent of muscle (function)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 1e-147 prot=3..187 DNA=77116471..77117025 fr=393 per=156/185 [EST] [P]
E-value 1e-147 prot=205..374 DNA=77117072..77117590 fr=393 per=114/181 [EST] [P]
E-value 1e-147 prot=188..204 DNA=77117022..77117072 fr=393 per=15/17 [EST] [P]
E-value 5e-80 prot=165..326 DNA=79631892..79631407 fr=393 per=116/162 [EST] [P]
E-value 5e-80 prot=88..173 DNA=79632121..79631867 fr=393 per=52/86 [EST] [P]
E-value 5e-23 prot=41..90 DNA=79634317..79634174 fr=393 per=44/50 [EST] [P]
E-value 5e-23 prot=4..43 DNA=79634417..79634301 fr=393 per=23/40 [EST] [P]
CANDIDATE 2
DNA (Note)
R-score = 0.000115; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
   
   
1 aa NP_647477 653 aa

Similarity found to protein:
[273|NP_647477] | Homo sapiens | amphiphysin isoform 2 | length=653 aa
GO annotation:
0.000104 protein binding (function)
0.000000 cytoplasm (component)
0.000000 endocytosis (process)
0.000000 synaptic transmission (process)
0.000000 synaptic vesicle (component)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 6e-20 prot=124..268 DNA=75242138..75242563 fr=653 per=70/145 [EST]
E-value 2e-11 prot=34..122 DNA=75242133..75241867 fr=653 per=33/89 [EST]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_003624]
R-score = 0.000288; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
   
   
1 aa NP_005888 584 aa

Similarity found to protein:
[3652|NP_005888] | Homo sapiens | intracisternal A particle-promoted polypeptide | length=584 aa
GO annotation:
0.002314 actin binding (function)
0.000104 protein binding (function)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 5e-45 prot=14..569 DNA=73968001..73966364 fr=584 per=159/576 [EST]
CANDIDATE 4
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.000518; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
  
1 aa NP_523968 418 aa

Similarity found to protein:
[38898|NP_523968] | Drosophila melanogaster | Actin-related protein 66B CG7558-PA | length=418 aa
GO annotation:

0.002314 actin binding (function)
0.000501 structural constituent of cytoskeleton (function)
0.000209 actin filament (component)
0.000765 Arp2/3 protein complex (component)
0.000595 cytoskeleton organization and biogenesis (process)
0.000000 cytoplasmic transport, nurse cell to oocyte (process)
0.000000 axonal fasciculation (process)
0.000108 regulation of actin polymerization and/or depolymerization (process)
0.000000 ovarian ring canal stabilization (process)
0.003713 actin cytoskeleton (component)
0.000000 actin filament reorganization during cell cycle (process)
0.000000 pseudocleavage (sensu Insecta) (process)
BLASTX hits:
E-value 2e-49 prot=5..201 DNA=77116480..77117025 fr=418 per=75/198 [EST] [P]
E-value 2e-49 prot=222..418 DNA=77117081..77117602 fr=418 per=61/199 [EST] [P]
E-value 1e-11 prot=173..407 DNA=79631910..79631275 fr=418 per=60/237 [EST] [P]
CANDIDATE 5
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.000863; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
  
1 aa NP_524331 376 aa

Similarity found to protein:
[41566|NP_524331] | Drosophila melanogaster | Actin-related protein 87C CG6174-PA | length=376 aa
GO annotation:

0.000000 motor activity (function)
0.002314 actin binding (function)
0.000501 structural constituent of cytoskeleton (function)
0.000000 dynactin complex (component)
0.000209 actin filament (component)
0.000595 cytoskeleton organization and biogenesis (process)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 2e-90 prot=12..191 DNA=77116489..77117025 fr=376 per=94/180 [EST] [P]
E-value 2e-90 prot=209..367 DNA=77117072..77117560 fr=376 per=79/163 [EST] [P]
E-value 9e-51 prot=169..376 DNA=79631892..79631257 fr=376 per=88/213 [EST] [P]
E-value 9e-51 prot=104..177 DNA=79632085..79631867 fr=376 per=34/74 [EST] [P]
CANDIDATE 6
DNA (Note)
R-score = 0.001266; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
   
     
1 aa NP_477041 522 aa

Similarity found to protein:
[34338|NP_477041] | Drosophila melanogaster | Pen-P1 CG4799-PA | length=522 aa
GO annotation:
0.000000 protein import into nucleus, docking (process)
0.000000 nucleus (component)
0.000000 nuclear pore (component)
0.000000 cytoplasm (component)
0.000000 protein import into nucleus (process)
0.000000 NLS-bearing substrate import into nucleus (process)
0.000000 sperm individualization (process)
0.000000 ovarian ring canal formation (process)
0.000000 cytoplasmic transport, nurse cell to oocyte (process)
0.000018 cell proliferation (process)
0.000000 protein carrier activity (function)
0.003713 actin cytoskeleton (component)
0.000000 cytoplasmic transport (process)
0.000000 lymph gland development (sensu Arthropoda) (process)
BLASTX hits:
E-value 5e-75 prot=68..303 DNA=75164177..75163473 fr=522 per=106/236 [EST]
E-value 5e-75 prot=376..493 DNA=75163256..75162912 fr=522 per=41/118 [EST]
E-value 5e-75 prot=304..377 DNA=75163471..75163253 fr=522 per=30/74 [EST]
E-value 5e-75 prot=24..61 DNA=75164308..75164183 fr=522 per=16/42 [EST]
CANDIDATE 7
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.001496; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
 
1 aa NP_033739 375 aa

Similarity found to protein:
[11465|NP_033739] | Mus musculus | actin-like | length=375 aa
GO annotation:

0.000000 nucleotide binding (function)
0.000000 motor activity (function)
0.000032 structural molecule activity (function)
0.000501 structural constituent of cytoskeleton (function)
0.000104 protein binding (function)
0.000000 ATP binding (function)
0.000728 cytoskeleton (component)
0.000209 actin filament (component)
0.003713 actin cytoskeleton (component)
0.000000 myofibril (component)
0.000000 costamere (component)
0.000000 sarcomere organization (process)
BLASTX hits:
E-value 1e-178 prot=1..186 DNA=77116468..77117025 fr=375 per=163/186 [EST] [P]
E-value 1e-178 prot=204..367 DNA=77117072..77117563 fr=375 per=149/164 [EST] [P]
E-value 1e-178 prot=187..203 DNA=77117022..77117072 fr=375 per=15/17 [EST] [P]
E-value 1e-178 prot=367..375 DNA=77117560..77117586 fr=375 per=9/9 [EST] [P]
E-value 1e-114 prot=164..375 DNA=79631892..79631257 fr=375 per=171/212 [EST] [P]
E-value 1e-114 prot=87..172 DNA=79632121..79631867 fr=375 per=57/86 [EST] [P]
E-value 5e-24 prot=40..89 DNA=79634317..79634174 fr=375 per=44/50 [EST] [P]
E-value 5e-24 prot=1..42 DNA=79634423..79634301 fr=375 per=24/42 [EST] [P]
CANDIDATE 8
DNA (Note)
R-score = 0.002014; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
   
   
1 aa NP_647601 409 aa

Similarity found to protein:
[274|NP_647601] | Homo sapiens | bridging integrator 1 isoform 9 | length=409 aa
GO annotation:
0.000104 protein binding (function)
0.000000 nucleus (component)
0.000000 cytoplasm (component)
0.000018 cell proliferation (process)
0.003713 actin cytoskeleton (component)
0.000000 regulation of endocytosis (process)
0.000000 cell differentiation (process)
0.000000 negative regulation of progression through cell cycle (process)
BLASTX hits:
E-value 5e-21 prot=129..257 DNA=75242138..75242524 fr=409 per=72/129 [EST]
E-value 1e-16 prot=39..127 DNA=75242133..75241867 fr=409 per=42/89 [EST]
CANDIDATE 9
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.002531; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
   
1 aa NP_523372 394 aa

Similarity found to protein:
[32623|NP_523372] | Drosophila melanogaster | Actin-related protein 14D CG9901-PA | length=394 aa
GO annotation:

0.002314 actin binding (function)
0.000501 structural constituent of cytoskeleton (function)
0.000209 actin filament (component)
0.000765 Arp2/3 protein complex (component)
0.000595 cytoskeleton organization and biogenesis (process)
0.000108 regulation of actin polymerization and/or depolymerization (process)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 7e-76 prot=9..190 DNA=77116489..77117025 fr=394 per=80/182 [EST] [P]
E-value 7e-76 prot=205..382 DNA=77117063..77117560 fr=394 per=80/178 [EST] [P]
E-value 6e-34 prot=162..388 DNA=79631910..79631266 fr=394 per=85/227 [EST] [P]
CANDIDATE 10
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.002992; GO-score = 0.003713
66700000 bp Chromosome 5 91900000 bp
     
 
1 aa NP_037025 376 aa

Similarity found to protein:
[25365|NP_037025] | Rattus norvegicus | actin, gamma 2 | length=376 aa
GO annotation:

0.000000 motor activity (function)
0.000032 structural molecule activity (function)
0.000501 structural constituent of cytoskeleton (function)
0.000728 cytoskeleton (component)
0.000209 actin filament (component)
0.000595 cytoskeleton organization and biogenesis (process)
0.000125 muscle development (process)
0.000000 structural constituent of muscle (function)
0.003713 actin cytoskeleton (component)
BLASTX hits:
E-value 1e-171 prot=3..187 DNA=77116471..77117025 fr=376 per=156/185 [EST] [P]
E-value 1e-171 prot=205..368 DNA=77117072..77117563 fr=376 per=141/164 [EST] [P]
E-value 1e-171 prot=188..204 DNA=77117022..77117072 fr=376 per=15/17 [EST] [P]
E-value 1e-171 prot=368..376 DNA=77117560..77117586 fr=376 per=9/9 [EST] [P]
E-value 1e-107 prot=165..376 DNA=79631892..79631257 fr=376 per=161/212 [EST] [P]
E-value 1e-107 prot=88..173 DNA=79632121..79631867 fr=376 per=52/86 [EST] [P]
E-value 5e-23 prot=41..90 DNA=79634317..79634174 fr=376 per=44/50 [EST] [P]
E-value 5e-23 prot=4..43 DNA=79634417..79634301 fr=376 per=23/40 [EST] [P]