Analysis of Aortic aneurysm, familial thoracic 1
Analysis of Aortic aneurysm, familial thoracic 1 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 1
Method: Md
Chromosome: 11
Genomic position start-stop: 114400000-130300000
length: 15900001
Band: 11q23.3-q24
 LINKS

EntrezGene: [252842]

MEDLINE:

OMIM: [607086] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY
A set of 6 papers related to this disease was derived from MEDLINE using the query:
Aortic [tw] AND aneurysm [tw] AND familial [tw] AND thoracic [tw] AND 1 [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]
Aortic Aneurysm [2]
Arteriosclerosis [1]
Marfan Syndrome [1]
Hyperlipidemia, Familial Combined [1]
Thrombosis [1]
Genetic Predisposition to Disease [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.

0.001548 phospholipid catabolism (process)
0.001285 actin cytoskeleton (component)
0.001213 low-density lipoprotein receptor activity (function)
0.001096 cholesterol metabolism (process)
0.001065 antibacterial peptide activity (function)
0.000858 heparin binding (function)
0.000801 actin binding (function)
0.000728 lipoprotein binding (function)
0.000721 STAT protein nuclear translocation (process)
We show here only the top 10. You can also see the complete list of 358 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 1. 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 = 0.000575; GO-score = 0.001285
114400000 bp Chromosome 11 130300000 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:
0.000801 actin binding (function)
0.000036 protein binding (function)
0.001285 actin cytoskeleton (component)
BLASTX hits:
E-value 6e-15 prot=15..134 DNA=129630504..129630145 fr=584 per=41/120 [EST]
CANDIDATE 2
DNA (Note)
R-score = 0.006099; GO-score = 0.001213
114400000 bp Chromosome 11 130300000 bp
   
   
1 aa NP_443737 4599 aa

Similarity found to protein:
[94217|NP_443737] | Mus musculus | low density lipoprotein-related protein 1B | length=4599 aa
GO annotation:
0.000132 receptor activity (function)
0.001213 low-density lipoprotein receptor activity (function)
0.000114 calcium ion binding (function)
0.000036 protein binding (function)
0.000000 membrane fraction (component)
0.000221 endocytosis (process)
0.000000 membrane (component)
0.000000 integral to membrane (component)
BLASTX hits:
E-value 3e-11 prot=3479..3510 DNA=129566977..129567072 fr=4599 per=19/32 [EST]
E-value 3e-11 prot=3515..3549 DNA=129567165..129567269 fr=4599 per=18/35 [EST]
CANDIDATE 3
DNA (Note) PROTEIN: [NP_000031]
R-score = 0.007077; GO-score = 0.001096
114400000 bp Chromosome 11 130300000 bp
   
  
1 aa NP_036870 259 aa

Similarity found to protein:
[25081|NP_036870] | Rattus norvegicus | apolipoprotein A-I | length=259 aa
GO annotation:
0.000240 lipid transporter activity (function)
0.000036 protein binding (function)
0.000138 extracellular region (component)
0.000095 extracellular space (component)
0.000202 lipid transport (process)
0.000107 circulation (process)
0.000227 high-density lipoprotein binding (function)
0.001096 cholesterol metabolism (process)
0.000093 lipid binding (function)
0.000000 regulation of cholesterol absorption (process)
0.000000 lipoprotein metabolism (process)
BLASTX hits:
E-value 2e-51 prot=66..258 DNA=116206539..116205943 fr=259 per=114/199 [EST]
E-value 9e-13 prot=21..65 DNA=116207266..116207129 fr=259 per=39/46 [EST]
CANDIDATE 4
DNA (Note)
R-score = 0.010011; GO-score = 0.001096
114400000 bp Chromosome 11 130300000 bp
   
         
1 aa NP_058198 662 aa

Similarity found to protein:
[9619|NP_058198] | Homo sapiens | ATP-binding cassette sub-family G member 1 isoform b | length=662 aa
GO annotation:
0.000000 nucleotide binding (function)
0.000059 ATP binding (function)
0.000000 membrane fraction (component)
0.000059 endoplasmic reticulum (component)
0.000000 Golgi stack (component)
0.000202 lipid transport (process)
0.001096 cholesterol metabolism (process)
0.000000 detection of hormone stimulus (process)
0.000000 response to organic substance (process)
0.000000 L-tryptophan transporter activity (function)
0.000000 purine nucleotide transporter activity (function)
0.000000 permease activity (function)
0.000000 membrane (component)
0.000000 ATPase activity (function)
0.000000 ATPase activity, coupled to transmembrane movement of substances (function)
0.000000 cholesterol homeostasis (process)
0.000000 protein dimerization activity (function)
BLASTX hits:
E-value 2e-22 prot=246..320 DNA=118526362..118526697 fr=662 per=60/112 [EST]
E-value 2e-26 prot=131..178 DNA=118524278..118524421 fr=662 per=38/48 [EST]
E-value 7e-13 prot=574..643 DNA=118530860..118531066 fr=662 per=41/70 [EST]
E-value 9e-13 prot=193..238 DNA=118524790..118524927 fr=662 per=40/46 [EST]
E-value 2e-11 prot=541..585 DNA=118530537..118530671 fr=662 per=38/45 [EST]
E-value 4e-11 prot=38..92 DNA=118520061..118520225 fr=662 per=35/55 [EST]
E-value 2e-26 prot=92..131 DNA=118524045..118524164 fr=662 per=32/40 [EST]
CANDIDATE 5
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.010184; GO-score = 0.000858
114400000 bp Chromosome 11 130300000 bp
   
     
1 aa NP_031497 695 aa

Similarity found to protein:
[11820|NP_031497] | Mus musculus | amyloid beta (A4) precursor protein | length=695 aa
GO annotation:

0.000083 endopeptidase inhibitor activity (function)
0.000095 serine-type endopeptidase inhibitor activity (function)
0.000051 binding (function)
0.000000 iron ion binding (function)
0.000192 copper ion binding (function)
0.000036 protein binding (function)
0.000000 coated pit (component)
0.000221 endocytosis (process)
0.000111 apoptosis (process)
0.000000 cell adhesion (process)
0.000000 Notch signaling pathway (process)
0.000000 axon cargo transport (process)
0.000858 heparin binding (function)
0.000000 visual learning (process)
0.000000 membrane (component)
0.000000 integral to membrane (component)
0.000000 extracellular matrix organization and biogenesis (process)
0.000000 axon (component)
0.000000 forebrain development (process)
0.000000 cytoplasmic vesicle (component)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 4e-15 prot=24..76 DNA=129478102..129478260 fr=695 per=38/53 [EST] [P]
E-value 4e-13 prot=359..411 DNA=129497703..129497861 fr=695 per=39/53 [EST] [P]
CANDIDATE 6
DNA (Note) PROTEIN: [NP_064613] [NP_955469] [NP_955470] [NP_955471]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.012025; GO-score = 0.000858
114400000 bp Chromosome 11 130300000 bp
       
  
1 aa NP_036110 292 aa

Similarity found to protein:
[26465|NP_036110] | Mus musculus | zinc finger protein 146 | length=292 aa
GO annotation:

0.000000 nucleus (component)
0.000067 regulation of transcription, DNA-dependent (process)
0.000858 heparin binding (function)
0.000037 zinc ion binding (function)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 4e-61 prot=45..291 DNA=123096520..123095780 fr=292 per=103/247 [EST] [P]
E-value 4e-60 prot=18..265 DNA=123096517..123095774 fr=292 per=106/248 [EST] [P]
E-value 3e-47 prot=8..207 DNA=123096463..123095780 fr=292 per=88/228 [EST] [P]
E-value 4e-24 prot=5..123 DNA=123096136..123095780 fr=292 per=51/119 [EST] [P]
E-value 9e-16 prot=184..291 DNA=123096523..123096200 fr=292 per=41/108 [EST] [P]
E-value 3e-15 prot=122..190 DNA=128664265..128664065 fr=292 per=40/69 [EST] [P]
E-value 6e-14 prot=177..266 DNA=128664268..128664008 fr=292 per=43/90 [EST] [P]
E-value 2e-16 prot=115..218 DNA=128664537..128664226 fr=292 per=44/104 [EST] [P]
E-value 1e-13 prot=149..235 DNA=128664268..128664017 fr=292 per=39/87 [EST] [P]
E-value 1e-13 prot=93..163 DNA=128664268..128664062 fr=292 per=35/71 [EST] [P]
E-value 2e-13 prot=66..139 DNA=128664265..128664050 fr=292 per=38/74 [EST] [P]
E-value 2e-16 prot=143..246 DNA=128664537..128664226 fr=292 per=43/104 [EST] [P]
E-value 1e-12 prot=205..290 DNA=128664268..128663981 fr=292 per=40/98 [EST] [P]
E-value 2e-14 prot=171..274 DNA=128664537..128664226 fr=292 per=42/104 [EST] [P]
E-value 2e-12 prot=38..117 DNA=128664265..128664026 fr=292 per=38/82 [EST] [P]
E-value 2e-12 prot=59..162 DNA=128664537..128664226 fr=292 per=40/104 [EST] [P]
E-value 8e-12 prot=31..134 DNA=128664537..128664226 fr=292 per=41/104 [EST] [P]
E-value 2e-11 prot=87..190 DNA=128664537..128664226 fr=292 per=40/104 [EST] [P]
E-value 2e-16 prot=61..126 DNA=128664776..128664582 fr=292 per=20/66 [EST] [P]
E-value 2e-14 prot=118..154 DNA=128664692..128664582 fr=292 per=12/37 [EST] [P]
E-value 2e-16 prot=44..70 DNA=128664662..128664582 fr=292 per=11/27 [EST] [P]
E-value 2e-16 prot=98..122 DNA=128664586..128664512 fr=292 per=9/25 [EST] [P]
E-value 2e-12 prot=42..50 DNA=128664586..128664560 fr=292 per=7/9 [EST] [P]
E-value 7e-13 prot=172..277 DNA=129293875..129293552 fr=292 per=37/108 [EST] [P]
E-value 5e-12 prot=145..258 DNA=129293872..129293525 fr=292 per=40/116 [EST] [P]
CANDIDATE 7
DNA (Note)
R-score = 0.014211; GO-score = 0.000858
114400000 bp Chromosome 11 130300000 bp
   
  
1 aa NP_062505 571 aa

Similarity found to protein:
[2160|NP_062505] | Homo sapiens | platelet coagulation factor XI isoform b | length=571 aa
GO annotation:
0.000000 coagulation factor IXa activity (function)
0.000330 coagulation factor XIa activity (function)
0.000095 extracellular space (component)
0.000059 proteolysis (process)
0.000493 blood coagulation (process)
0.000858 heparin binding (function)
0.000043 peptidase activity (function)
0.000000 membrane (component)
BLASTX hits:
E-value 4e-11 prot=518..569 DNA=117273885..117273730 fr=571 per=30/52 [EST]
CANDIDATE 8
DNA (Note) PROTEIN: [NP_620686]
R-score = 0.014441; GO-score = 0.000858
114400000 bp Chromosome 11 130300000 bp
   
  
1 aa NP_008968 890 aa

Similarity found to protein:
[11095|NP_008968] | Homo sapiens | a disintegrin and metalloprotease with thrombospondin motifs-8 | length=890 aa
GO annotation:
0.000000 metalloendopeptidase activity (function)
0.000087 integrin binding (function)
0.000207 extracellular matrix (sensu Metazoa) (component)
0.000059 proteolysis (process)
0.000858 heparin binding (function)
0.000037 zinc ion binding (function)
0.000071 negative regulation of cell proliferation (process)
0.000000 low affinity phosphate transporter activity (function)
0.000000 metal ion binding (function)
BLASTX hits:
E-value 1e-106 prot=701..890 DNA=129774785..129774216 fr=890 per=189/190 [EST]
E-value 2e-78 prot=38..241 DNA=129796833..129796222 fr=890 per=204/204 [EST]
E-value 9e-45 prot=443..523 DNA=129783428..129783186 fr=890 per=81/81 [EST]
E-value 4e-40 prot=31..321 DNA=129817668..129818585 fr=890 per=136/314 [EST]
E-value 9e-40 prot=241..321 DNA=129787950..129787708 fr=890 per=81/81 [EST]
E-value 2e-39 prot=697..889 DNA=129841688..129842308 fr=890 per=87/209 [EST]
E-value 3e-27 prot=585..643 DNA=129777596..129777420 fr=890 per=59/59 [EST]
E-value 5e-27 prot=642..700 DNA=129777297..129777121 fr=890 per=58/59 [EST]
E-value 2e-24 prot=367..419 DNA=129784986..129784828 fr=890 per=53/53 [EST]
E-value 9e-24 prot=523..585 DNA=129780258..129780070 fr=890 per=62/63 [EST]
E-value 2e-19 prot=321..369 DNA=129785733..129785587 fr=890 per=47/49 [EST]
E-value 1e-16 prot=515..586 DNA=129837884..129838099 fr=890 per=37/72 [EST]
E-value 4e-29 prot=642..698 DNA=129839860..129840030 fr=890 per=31/57 [EST]
E-value 3e-12 prot=423..521 DNA=129831151..129831429 fr=890 per=41/100 [EST]
E-value 4e-29 prot=544..643 DNA=129839442..129839759 fr=890 per=47/106 [EST]
CANDIDATE 9
DNA (Note)
R-score = 0.014901; GO-score = 0.000858
114400000 bp Chromosome 11 130300000 bp
   
  
1 aa NP_034569 215 aa

Similarity found to protein:
[15289|NP_034569] | Mus musculus | high mobility group box 1 | length=215 aa
GO annotation:
0.000000 chromatin (component)
0.000000 DNA binding (function)
0.000036 protein binding (function)
0.000095 extracellular space (component)
0.000000 nucleus (component)
0.000000 chromosome (component)
0.000000 DNA packaging (process)
0.000067 regulation of transcription, DNA-dependent (process)
0.000000 nitric oxide biosynthesis (process)
0.000000 transport (process)
0.000858 heparin binding (function)
0.000000 nitric-oxide synthase regulator activity (function)
BLASTX hits:
E-value 6e-30 prot=2..176 DNA=120306571..120306053 fr=215 per=87/175 [EST]
CANDIDATE 10
DNA (Note) PROTEIN: [NP_057080]
R-score = 0.024049; GO-score = 0.000801
114400000 bp Chromosome 11 130300000 bp
   
   
1 aa NP_113737 201 aa

Similarity found to protein:
[25123|NP_113737] | Rattus norvegicus | transgelin | length=201 aa
GO annotation:
0.000801 actin binding (function)
0.000206 cytoskeleton organization and biogenesis (process)
0.000120 muscle development (process)
0.000000 protein binding, bridging (function)
0.000000 actin filament binding (function)
BLASTX hits:
E-value 3e-53 prot=1..58 DNA=116573140..116573313 fr=201 per=56/58 [EST]
E-value 3e-53 prot=61..118 DNA=116573433..116573606 fr=201 per=56/58 [EST]
E-value 2e-17 prot=154..201 DNA=116574339..116574482 fr=201 per=46/48 [EST]
E-value 5e-11 prot=120..154 DNA=116573907..116574011 fr=201 per=34/35 [EST]