CHROMOSOMAL REGION Disease mapped: Aicardi-Goutieres syndrome 1 Method: Md Chromosome: 3 Genomic position start-stop: 43600000-54400000 length: 10800001 Band: 3p21

LINKS EntrezGene: [27003] MEDLINE: OMIM: [225750] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY

A set of 1 papers related to this disease was derived from MEDLINE using the query:
Aicardi-Goutieres [tw] AND syndrome [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). Abnormalities, Multiple [1] Brain Damage, Chronic [1] Syndrome [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. 0.001809 phosphopyruvate hydratase activity (function) 0.000562 creatine kinase activity (function) 0.000546 N-methyl-D-aspartate selective glutamate receptor activity (function) 0.000525 glutamate receptor activity (function) 0.000509 toxin activity (function) 0.000509 glutamate signaling pathway (process) 0.000445 negative regulation of DNA replication (process) 0.000407 ribonuclease activity (function) 0.000382 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (function) 0.000375 kainate selective glutamate receptor activity (function) We show here only the top 10. You can also see the complete list of 146 GO terms. Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Aicardi-Goutieres syndrome 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]

What is in a candidate?

0.000000 nucleotide binding (function)

0.000024 skeletal development (process)

0.000131 regulation of action potential (process)

0.000000 GTPase activity (function)

0.000017 signal transducer activity (function)

0.000036 GTP binding (function)

0.000000 heterotrimeric G-protein complex (component)

0.000000 protein amino acid ADP-ribosylation (process)

0.000000 signal transduction (process)

0.000038 G-protein coupled receptor protein signaling pathway (process)

0.000050 G-protein signaling, adenylate cyclase activating pathway (process)

0.000509 glutamate signaling pathway (process)

0.000073 heart development (process)

0.000068 neuron remodeling (process)

0.000000 guanyl nucleotide binding (function)

0.000000 regulation of melanocyte differentiation (process)

0.000000 pigmentation during development (process)
BLASTX hits:

E-value 2e-22 prot=200..297 DNA=50269152..50269529 fr=359 per=63/126 [EST]

---

CANDIDATE 2
DNA (Note) PROTEIN: [NP_000570] [NP_000638] [NP_000639] [NP_001286] [NP_001828] [NP_005274] [NP_006555] [NP_006632] [NP_112477] [NP_847899]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.001784; GO-score = 0.000509

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_033242

391 aa

Similarity found to protein:
[20605|NP_033242] | Mus musculus | somatostatin receptor 1 | length=391 aa
GO annotation:

0.000000 rhodopsin-like receptor activity (function)

0.000017 signal transducer activity (function)

0.000000 receptor activity (function)

0.000000 G-protein coupled receptor activity (function)

0.000000 neuropeptide Y receptor activity (function)

0.000000 somatostatin receptor activity (function)

0.000000 membrane fraction (component)

0.000000 plasma membrane (component)

0.000000 signal transduction (process)

0.000038 G-protein coupled receptor protein signaling pathway (process)

0.000509 glutamate signaling pathway (process)

0.000045 neuropeptide signaling pathway (process)

0.000000 integral to membrane (component)

0.000000 purinergic nucleotide receptor activity, G-protein coupled (function)
BLASTX hits:

E-value 5e-24 prot=55..343 DNA=45963060..45963914 fr=391 per=89/301 [EST] [P]

E-value 6e-23 prot=64..338 DNA=45917445..45918281 fr=391 per=86/289 [EST] [P]

E-value 2e-27 prot=64..328 DNA=46281772..46282572 fr=391 per=74/276 [EST] [P]

E-value 2e-22 prot=55..332 DNA=46374138..46374965 fr=391 per=77/290 [EST] [P]

E-value 4e-18 prot=55..331 DNA=46389477..46390313 fr=391 per=82/289 [EST] [P]

E-value 7e-16 prot=85..337 DNA=46220629..46219865 fr=391 per=71/265 [EST] [P]

E-value 3e-14 prot=57..342 DNA=46038357..46037527 fr=391 per=74/296 [EST] [P]

---

CANDIDATE 3
DNA (Note)
R-score = 0.004775; GO-score = 0.000211

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_524934

552 aa

Similarity found to protein:
[48973|NP_524934] | Drosophila melanogaster | Src oncogene at 64B CG7524-PB | length=552 aa
GO annotation:

0.000000 protein-tyrosine kinase activity (function)

0.000000 non-membrane spanning protein tyrosine kinase activity (function)

0.000000 ATP binding (function)

0.000000 protein amino acid phosphorylation (process)

0.000000 JNK cascade (process)

0.000000 ovarian ring canal formation (process)

0.000000 cellularization (process)

0.000000 dorsal closure (process)

0.000211 learning and/or memory (process)

0.000000 regulation of actin polymerization and/or depolymerization (process)

0.000000 ring canal formation, actin assembly (process)

0.000000 ovarian ring canal stabilization (process)

0.000000 olfactory learning (process)

0.000000 mushroom body development (process)

0.000000 peptidyl-tyrosine phosphorylation (process)

0.000000 parallel actin filament bundle formation (process)

0.000000 ring canal (sensu Insecta) (component)
BLASTX hits:

E-value 9e-26 prot=370..529 DNA=46159928..46159440 fr=552 per=73/165 [EST]

---

CANDIDATE 4
DNA (Note) PROTEIN: [NP_006245] [NP_997704]
R-score = 0.006501; GO-score = 0.000211

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_036760

697 aa

Similarity found to protein:
[24681|NP_036760] | Rattus norvegicus | protein kinase C, gamma | length=697 aa
GO annotation:

0.000000 protein kinase activity (function)

0.000000 protein serine/threonine kinase activity (function)

0.000000 protein kinase C activity (function)

0.000000 protein-tyrosine kinase activity (function)

0.000130 calcium ion binding (function)

0.000000 ATP binding (function)

0.000000 nucleus (component)

0.000000 cytoplasm (component)

0.000000 cytosol (component)

0.000000 protein amino acid phosphorylation (process)

0.000029 intracellular signaling cascade (process)

0.000139 synaptic transmission (process)

0.000211 learning and/or memory (process)

0.000000 chemosensory behavior (process)

0.000000 transferase activity (function)

0.000000 synaptosome (component)

0.000000 diacylglycerol binding (function)
BLASTX hits:

E-value 2e-14 prot=477..529 DNA=53197769..53197927 fr=697 per=38/53 [EST]

---

CANDIDATE 5
DNA (Note) PROTEIN: [NP_064593] [NP_071800]
R-score = 0.010529; GO-score = 0.000139

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_003033

599 aa

Similarity found to protein:
[6529|NP_003033] | Homo sapiens | solute carrier family 6 (neurotransmitter transporter, GABA), member 1 | length=599 aa
GO annotation:

0.000000 neurotransmitter:sodium symporter activity (function)

0.000000 gamma-aminobutyric acid:sodium symporter activity (function)

0.000000 membrane fraction (component)

0.000000 integral to plasma membrane (component)

0.000000 neurotransmitter transport (process)

0.000139 synaptic transmission (process)

0.000000 symporter activity (function)

0.000044 membrane (component)
BLASTX hits:

E-value 6e-12 prot=278..346 DNA=45787949..45787743 fr=599 per=40/69 [EST]

---

CANDIDATE 6
DNA (Note) PROTEIN: [NP_001398]
R-score = 0.010644; GO-score = 0.000139

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_061753

800 aa

Similarity found to protein:
[56126|NP_061753] | Homo sapiens | protocadherin beta 10 precursor | length=800 aa
GO annotation:

0.000130 calcium ion binding (function)

0.000000 protein binding (function)

0.000017 cell adhesion (process)

0.000000 homophilic cell adhesion (process)

0.000139 synaptic transmission (process)

0.000000 synaptogenesis (process)

0.000044 membrane (component)

0.000000 integral to membrane (component)

0.000000 calcium-dependent cell-cell adhesion (process)
BLASTX hits:

E-value 1e-45 prot=77..675 DNA=48673611..48671860 fr=800 per=172/624 [EST]

E-value 2e-45 prot=123..649 DNA=48672837..48671314 fr=800 per=169/539 [EST]

E-value 9e-42 prot=35..664 DNA=48674073..48672214 fr=800 per=179/652 [EST]

E-value 1e-40 prot=131..559 DNA=48674106..48672811 fr=800 per=147/446 [EST]

E-value 3e-23 prot=345..701 DNA=48674106..48673039 fr=800 per=99/367 [EST]

E-value 5e-22 prot=34..367 DNA=48672477..48671500 fr=800 per=104/340 [EST]

---

CANDIDATE 7
DNA (Note) PROTEIN: [NP_000830] (Itself)
R-score = 0.011047; GO-score = 0.000139

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_000830

872 aa

Similarity found to protein:
[2912|NP_000830] | Homo sapiens | glutamate receptor, metabotropic 2 precursor | length=872 aa
GO annotation:

0.000000 receptor activity (function)

0.000000 integral to plasma membrane (component)

0.000000 signal transduction (process)

0.000038 G-protein coupled receptor protein signaling pathway (process)

0.000000 negative regulation of adenylate cyclase activity (process)

0.000139 synaptic transmission (process)

0.000095 metabotropic glutamate, GABA-B-like receptor activity (function)

0.000044 membrane (component)
BLASTX hits:

E-value 0.0 prot=430..789 DNA=51724118..51725197 fr=872 per=357/360 [EST]

E-value 1e-147 prot=152..468 DNA=51721533..51722432 fr=872 per=282/317 [EST]

E-value 1e-74 prot=1..151 DNA=51718041..51718493 fr=872 per=150/151 [EST]

---

CANDIDATE 8
DNA (Note) PROTEIN: [NP_000711]
R-score = 0.012370; GO-score = 0.000139

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_005174

1966 aa

Similarity found to protein:
[778|NP_005174] | Homo sapiens | calcium channel, voltage-dependent, alpha 1F subunit | length=1966 aa
GO annotation:

0.000000 voltage-gated calcium channel activity (function)

0.000130 calcium ion binding (function)

0.000000 voltage-gated calcium channel complex (component)

0.000000 cation transport (process)

0.000000 calcium ion transport (process)

0.000139 synaptic transmission (process)

0.000000 sensory perception (process)

0.000000 visual perception (process)

0.000044 membrane (component)

0.000000 integral to membrane (component)
BLASTX hits:

E-value 6e-36 prot=551..696 DNA=53732501..53733070 fr=1966 per=122/190 [EST]

E-value 5e-30 prot=1419..1495 DNA=53785665..53786024 fr=1966 per=74/120 [EST]

E-value 9e-26 prot=268..339 DNA=53675391..53675606 fr=1966 per=54/72 [EST]

E-value 3e-20 prot=1367..1421 DNA=53784952..53785116 fr=1966 per=46/55 [EST]

E-value 1e-16 prot=1146..1205 DNA=53760814..53760993 fr=1966 per=43/60 [EST]

E-value 2e-15 prot=1030..1079 DNA=53756368..53756517 fr=1966 per=40/50 [EST]

E-value 2e-14 prot=128..180 DNA=53659847..53660005 fr=1966 per=39/53 [EST]

E-value 5e-14 prot=223..272 DNA=53674730..53674879 fr=1966 per=41/50 [EST]

E-value 2e-13 prot=695..738 DNA=53735944..53736075 fr=1966 per=38/44 [EST]

E-value 2e-13 prot=1271..1323 DNA=53779489..53779653 fr=1966 per=42/55 [EST]

E-value 4e-13 prot=366..415 DNA=53711686..53711835 fr=1966 per=40/50 [EST]

E-value 7e-13 prot=1082..1146 DNA=53758343..53758537 fr=1966 per=51/65 [EST]

E-value 1e-15 prot=976..1012 DNA=53754689..53754799 fr=1966 per=36/37 [EST]

E-value 1e-15 prot=1012..1030 DNA=53754888..53754944 fr=1966 per=13/19 [EST]

---

CANDIDATE 9
DNA (Note) PROTEIN: [NP_002283] (Itself)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.021518; GO-score = 0.000139

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_002283

1798 aa

Similarity found to protein:
[3913|NP_002283] | Homo sapiens | laminin, beta 2 precursor | length=1798 aa
GO annotation:

0.000000 structural molecule activity (function)

0.000000 protein binding (function)

0.000000 basal lamina (component)

0.000017 cell adhesion (process)

0.000139 synaptic transmission (process)
BLASTX hits:

E-value 1e-149 prot=1147..1328 DNA=49136524..49135883 fr=1798 per=181/214 [EST] [P]

E-value 1e-149 prot=1038..1151 DNA=49137048..49136599 fr=1798 per=105/150 [EST] [P]

E-value 2e-44 prot=577..673 DNA=49141260..49140895 fr=1798 per=97/122 [EST] [P]

E-value 1e-127 prot=960..1069 DNA=49137370..49137008 fr=1798 per=84/121 [EST] [P]

E-value 1e-127 prot=831..907 DNA=49137920..49137690 fr=1798 per=77/77 [EST] [P]

E-value 6e-75 prot=1409..1526 DNA=49135490..49135137 fr=1798 per=117/118 [EST] [P]

E-value 4e-33 prot=22..153 DNA=49145114..49144554 fr=1798 per=99/191 [EST] [P]

E-value 2e-31 prot=153..217 DNA=49144164..49143970 fr=1798 per=64/65 [EST] [P]

E-value 5e-30 prot=350..408 DNA=49142846..49142670 fr=1798 per=59/59 [EST] [P]

E-value 6e-30 prot=409..469 DNA=49142457..49142275 fr=1798 per=60/61 [EST] [P]

E-value 6e-75 prot=1312..1409 DNA=49135866..49135567 fr=1798 per=90/101 [EST] [P]

E-value 1e-127 prot=907..962 DNA=49137609..49137442 fr=1798 per=56/56 [EST] [P]

E-value 1e-108 prot=1525..1595 DNA=49134809..49134597 fr=1798 per=70/71 [EST] [P]

E-value 9e-24 prot=224..292 DNA=49143627..49143427 fr=1798 per=58/69 [EST] [P]

E-value 7e-50 prot=783..829 DNA=49138326..49138186 fr=1798 per=47/47 [EST] [P]

E-value 7e-50 prot=728..781 DNA=49138567..49138406 fr=1798 per=54/54 [EST] [P]

E-value 5e-21 prot=533..596 DNA=49141592..49141395 fr=1798 per=50/66 [EST] [P]

E-value 3e-20 prot=83..129 DNA=49144846..49144706 fr=1798 per=47/47 [EST] [P]

E-value 1e-108 prot=1700..1753 DNA=49134033..49133872 fr=1798 per=54/54 [EST] [P]

E-value 2e-18 prot=659..722 DNA=49138976..49138782 fr=1798 per=54/67 [EST] [P]

E-value 4e-23 prot=831..962 DNA=49156899..49156459 fr=1798 per=53/147 [EST] [P]

E-value 6e-18 prot=306..345 DNA=49143298..49143179 fr=1798 per=40/40 [EST] [P]

E-value 1e-108 prot=1640..1701 DNA=49134304..49134119 fr=1798 per=60/62 [EST] [P]

E-value 1e-15 prot=354..472 DNA=49166210..49165788 fr=1798 per=57/152 [EST] [P]

E-value 1e-108 prot=1754..1798 DNA=49133801..49133667 fr=1798 per=45/45 [EST] [P]

E-value 3e-15 prot=470..506 DNA=49142152..49142042 fr=1798 per=37/37 [EST] [P]

E-value 7e-11 prot=239..312 DNA=49166727..49166509 fr=1798 per=37/74 [EST] [P]

E-value 2e-19 prot=470..556 DNA=49137048..49136665 fr=1798 per=43/129 [EST] [P]

E-value 1e-108 prot=1594..1643 DNA=49134525..49134376 fr=1798 per=49/50 [EST] [P]

E-value 3e-15 prot=170..217 DNA=49171465..49171322 fr=1798 per=24/48 [EST] [P]

E-value 2e-19 prot=382..469 DNA=49137367..49137137 fr=1798 per=34/93 [EST] [P]

E-value 4e-23 prot=783..824 DNA=49157134..49157003 fr=1798 per=19/44 [EST] [P]

E-value 3e-15 prot=209..237 DNA=49171277..49171191 fr=1798 per=14/29 [EST] [P]

E-value 3e-15 prot=133..161 DNA=49171665..49171582 fr=1798 per=16/29 [EST] [P]

---

CANDIDATE 10
DNA (Note) PROTEIN: [NP_001055]
R-score = 0.024452; GO-score = 0.000130

43600000 bp

Chromosome 3

54400000 bp

1 aa

NP_033414

623 aa

Similarity found to protein:
[21881|NP_033414] | Mus musculus | transketolase | length=623 aa
GO annotation:

0.000000 transketolase activity (function)

0.000130 calcium ion binding (function)

0.000000 transferase activity (function)

0.000000 regulation of growth (process)

0.000000 metal ion binding (function)
BLASTX hits:

E-value 2e-27 prot=146..211 DNA=53244233..53244036 fr=623 per=60/66 [EST]

E-value 3e-23 prot=244..382 DNA=53239882..53239484 fr=623 per=70/144 [EST]

E-value 1e-21 prot=370..423 DNA=53238493..53238332 fr=623 per=53/54 [EST]

E-value 2e-18 prot=566..622 DNA=53234989..53234819 fr=623 per=48/57 [EST]

E-value 6e-17 prot=247..315 DNA=53240617..53240411 fr=623 per=61/69 [EST]

E-value 1e-14 prot=422..468 DNA=53238195..53238055 fr=623 per=44/47 [EST]

E-value 5e-14 prot=211..250 DNA=53242330..53242211 fr=623 per=39/40 [EST]

E-value 2e-13 prot=525..566 DNA=53235936..53235811 fr=623 per=40/42 [EST]

E-value 1e-11 prot=39..78 DNA=53251292..53251173 fr=623 per=36/40 [EST]