CHROMOSOMAL REGION Disease mapped: Aicardi syndrome Chromosome: X Genomic position start-stop: 0-24700000 length: 24700001 Band: Xp22

LINKS EntrezGene: [192] MEDLINE: OMIM: [304050] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY

A set of 192 papers related to this disease was derived from MEDLINE using the query:
Aicardi [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). Syndrome [163] Spasms, Infantile [78] Abnormalities, Multiple [71] Eye Abnormalities [34] Mental Retardation [32] Retinal Diseases [30] Brain Diseases [20] Coloboma [17] Epilepsy [16] Spasm [16] We show here only the 10 most frequent. You can also see the complete list of 156 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. 0.000470 melanocortin receptor activity (function) 0.000209 adrenocorticotropin receptor activity (function) 0.000105 physiological process (process) 0.000078 learning and/or memory (process) 0.000057 G-protein signaling, coupled to cyclic nucleotide second messenger (process) 0.000052 feeding behavior (process) 0.000045 G-protein signaling, coupled to cAMP nucleotide second messenger (process) 0.000045 G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) (process) 0.000040 peptide hormone (function) 0.000031 pregnancy (process) We show here only the top 10. You can also see the complete list of 12 GO terms. Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Aicardi 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]

What is in a candidate?

0.000000 Bolwig's organ morphogenesis (process)

0.000000 plasma membrane (component)

0.000000 homophilic cell adhesion (process)

0.000000 signal transduction (process)

0.000000 ectoderm development (process)

0.000000 axonal fasciculation (process)

0.000000 male genitalia morphogenesis (sensu Endopterygota) (process)

0.000000 neuromuscular junction development (process)

0.000078 learning and/or memory (process)

0.000000 learning (process)

0.000000 short-term memory (process)

0.000000 neuron recognition (process)

0.000000 olfactory learning (process)

0.000000 regulation of cell shape (process)

0.000000 integral to membrane (component)

0.000000 mushroom body development (process)

0.000000 axon (component)

0.000000 regulation of tracheal tube architecture (process)

0.000000 regulation of tracheal tube diameter (process)

0.000000 regulation of tracheal tube length (process)

0.000000 presynaptic membrane (component)

0.000000 postsynaptic membrane (component)

0.000000 behavioral response to ethanol (process)

0.000000 regulation of synapse structure and function (process)
BLASTX hits:

E-value 2e-19 prot=101..526 DNA=3222990..3221692 fr=873 per=115/455 [EST]

E-value 2e-15 prot=101..512 DNA=3222399..3221152 fr=873 per=105/440 [EST]

E-value 2e-14 prot=180..472 DNA=3229386..3228517 fr=873 per=89/310 [EST]

E-value 3e-14 prot=133..463 DNA=3222555..3221593 fr=873 per=94/351 [EST]

E-value 3e-12 prot=187..519 DNA=3223008..3222007 fr=873 per=84/355 [EST]

---

CANDIDATE 2
DNA (Note) PROTEIN: [NP_003401] [NP_996806]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.003395; GO-score = 0.000078

0 bp

Chromosome X

24700000 bp

1 aa

NP_036683

508 aa

Similarity found to protein:
[24330|NP_036683] | Rattus norvegicus | early growth response 1 | length=508 aa
GO annotation:

0.000000 nucleic acid binding (function)

0.000000 DNA binding (function)

0.000000 transcription factor activity (function)

0.000000 nucleus (component)

0.000000 regulation of transcription, DNA-dependent (process)

0.000078 learning and/or memory (process)

0.000000 zinc ion binding (function)

0.000000 transcriptional activator activity (function)

0.000000 T cell differentiation (process)

0.000000 positive regulation of transcription from RNA polymerase II promoter (process)
BLASTX hits:

E-value 2e-13 prot=318..396 DNA=21635122..21635370 fr=508 per=39/83 [EST] [P]

E-value 8e-12 prot=310..424 DNA=23988372..23988716 fr=508 per=44/117 [EST] [P]

---

CANDIDATE 3
DNA (Note) PROTEIN: [NP_005035]
R-score = 0.003855; GO-score = 0.000078

0 bp

Chromosome X

24700000 bp

1 aa

NP_476977

353 aa

Similarity found to protein:
[34284|NP_476977] | Drosophila melanogaster | Pka-C1-P1 CG4379-PB | length=353 aa
GO annotation:

0.000000 protein serine/threonine kinase activity (function)

0.000000 cAMP-dependent protein kinase activity (function)

0.000000 receptor signaling protein serine/threonine kinase activity (function)

0.000000 protein binding (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)

0.000000 activation of hh target transcription factor (process)

0.000000 oocyte anterior/posterior axis determination (process)

0.000000 regulation of pole plasm oskar mRNA localization (process)

0.000000 anterior/posterior pattern formation, imaginal disc (process)

0.000000 eye development (sensu Endopterygota) (process)

0.000000 wing morphogenesis (process)

0.000000 leg morphogenesis (sensu Endopterygota) (process)

0.000078 learning and/or memory (process)

0.000000 learning (process)

0.000000 memory (process)

0.000000 rhythmic behavior (process)

0.000000 oocyte microtubule cytoskeleton polarization (process)

0.000000 olfactory learning (process)

0.000000 regulation of bicoid mRNA localization (process)

0.000000 oogenesis (sensu Insecta) (process)

0.000000 cAMP-mediated signaling (process)

0.000000 locomotor rhythm (process)

0.000000 negative regulation of smoothened signaling pathway (process)

0.000000 behavioral response to ethanol (process)
BLASTX hits:

E-value 5e-21 prot=115..197 DNA=3566799..3566551 fr=353 per=48/83 [EST]

E-value 8e-12 prot=197..237 DNA=3553376..3553254 fr=353 per=31/41 [EST]

---

CANDIDATE 4
DNA (Note)
R-score = 0.004315; GO-score = 0.000078

0 bp

Chromosome X

24700000 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)

0.000078 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-11 prot=327..414 DNA=15318995..15319255 fr=552 per=39/88 [EST]

---

CANDIDATE 5
DNA (Note) PROTEIN: [NP_835230]
R-score = 0.005466; GO-score = 0.000057

0 bp

Chromosome X

24700000 bp

1 aa

NP_000905

400 aa

Similarity found to protein:
[4988|NP_000905] | Homo sapiens | opioid receptor, mu 1 | length=400 aa
GO annotation:

0.000000 rhodopsin-like receptor activity (function)

0.000000 receptor activity (function)

0.000000 mu-opioid receptor activity (function)

0.000000 endoplasmic reticulum (component)

0.000000 Golgi apparatus (component)

0.000000 plasma membrane (component)

0.000000 integral to plasma membrane (component)

0.000000 signal transduction (process)

0.000000 G-protein coupled receptor protein signaling pathway (process)

0.000057 G-protein signaling, coupled to cyclic nucleotide second messenger (process)

0.000000 sensory perception (process)

0.000000 behavior (process)

0.000000 negative regulation of cell proliferation (process)

0.000000 integral to membrane (component)
BLASTX hits:

E-value 5e-11 prot=70..186 DNA=1629162..1628809 fr=400 per=38/118 [EST]

---

CANDIDATE 6
DNA (Note) PROTEIN: [NP_005305]
R-score = 0.010874; GO-score = 0.000045

0 bp

Chromosome X

24700000 bp

1 aa

NP_002502

390 aa

Similarity found to protein:
[4829|NP_002502] | Homo sapiens | neuromedin B receptor | length=390 aa
GO annotation:

0.000000 rhodopsin-like receptor activity (function)

0.000000 receptor activity (function)

0.000000 bombesin receptor activity (function)

0.000000 plasma membrane (component)

0.000000 integral to plasma membrane (component)

0.000000 signal transduction (process)

0.000045 G-protein signaling, coupled to IP3 second messenger (phospholipase C activating) (process)
BLASTX hits:

E-value 6e-33 prot=137..258 DNA=15927321..15927689 fr=390 per=71/123 [EST]

E-value 2e-29 prot=258..382 DNA=15929286..15929651 fr=390 per=68/125 [EST]

E-value 1e-17 prot=45..141 DNA=15901107..15901397 fr=390 per=71/97 [EST]

---

CANDIDATE 7
DNA (Note) PROTEIN: [NP_000038] [NP_000342] [NP_001011719] [NP_001660] [NP_004033] [NP_033667]

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.013521; GO-score = 0.000031

0 bp

Chromosome X

24700000 bp

1 aa

NP_036793

577 aa

Similarity found to protein:
[24800|NP_036793] | Rattus norvegicus | steroid sulfatase | length=577 aa
GO annotation:

0.000000 steryl-sulfatase activity (function)

0.000000 calcium ion binding (function)

0.000000 extracellular space (component)

0.000000 membrane fraction (component)

0.000000 lysosome (component)

0.000000 endosome (component)

0.000000 endoplasmic reticulum (component)

0.000000 microsome (component)

0.000000 Golgi apparatus (component)

0.000000 plasma membrane (component)

0.000000 steroid catabolism (process)

0.000031 pregnancy (process)

0.000000 metabolism (process)

0.000000 steroid metabolism (process)

0.000000 sulfuric ester hydrolase activity (function)

0.000000 epidermis development (process)

0.000000 integral to membrane (component)

0.000000 hydrolase activity (function)
BLASTX hits:

E-value 2e-27 prot=457..577 DNA=2819042..2818689 fr=577 per=59/121 [EST] [P]

E-value 2e-24 prot=460..573 DNA=2944423..2944752 fr=577 per=55/114 [EST] [P]

E-value 5e-21 prot=441..573 DNA=2846636..2846259 fr=577 per=55/133 [EST] [P]

E-value 1e-11 prot=50..96 DNA=2987949..2988089 fr=577 per=35/47 [EST] [P]

E-value 2e-11 prot=50..93 DNA=2866942..2866811 fr=577 per=36/44 [EST] [P]

E-value 2e-11 prot=49..126 DNA=2833432..2833202 fr=577 per=44/78 [EST] [P]

E-value 2e-11 prot=51..93 DNA=2921434..2921562 fr=577 per=36/43 [EST] [P]

E-value 4e-11 prot=130..273 DNA=2829637..2829206 fr=577 per=47/148 [EST] [P]

E-value 3e-20 prot=461..561 DNA=3023582..3023881 fr=577 per=49/101 [EST] [P]

E-value 1e-39 prot=442..573 DNA=7127599..7128003 fr=577 per=80/137 [EST] [P]

E-value 1e-25 prot=132..273 DNA=7037126..7037551 fr=577 per=68/142 [EST] [P]

E-value 1e-24 prot=50..132 DNA=7035018..7035368 fr=577 per=67/117 [EST] [P]

E-value 1e-17 prot=365..423 DNA=7103116..7103292 fr=577 per=43/59 [EST] [P]

E-value 3e-12 prot=319..383 DNA=7082823..7083011 fr=577 per=38/65 [EST] [P]

E-value 1e-11 prot=273..322 DNA=7053727..7053876 fr=577 per=34/50 [EST] [P]

---

CANDIDATE 8
DNA (Note)

This candidate may be overlapping with a pseudogene (Note)
R-score = 0.015304; GO-score = 0.000031

0 bp

Chromosome X

24700000 bp

1 aa

NP_001847

1603 aa

Similarity found to protein:
[1307|NP_001847] | Homo sapiens | alpha 1 type XVI collagen precursor | length=1603 aa
GO annotation:

0.000000 structural molecule activity (function)

0.000000 extracellular matrix (sensu Metazoa) (component)

0.000000 collagen type XVI (component)

0.000000 cytoplasm (component)

0.000000 phosphate transport (process)

0.000000 cell adhesion (process)

0.000031 pregnancy (process)
BLASTX hits:

E-value 1e-14 prot=662..1540 DNA=445711..442916 fr=1603 per=247/997 [EST] [P]

E-value 2e-14 prot=1013..1275 DNA=574124..573264 fr=1603 per=86/291 [EST] [P]

E-value 1e-12 prot=1051..1395 DNA=574664..573618 fr=1603 per=108/367 [EST] [P]

---

CANDIDATE 9
DNA (Note)
R-score = 0.015707; GO-score = 0.000017

0 bp

Chromosome X

24700000 bp

1 aa

NP_002511

294 aa

Similarity found to protein:
[4869|NP_002511] | Homo sapiens | nucleophosmin 1 | length=294 aa
GO annotation:

0.000000 nucleic acid binding (function)

0.000000 transcription coactivator activity (function)

0.000000 RNA binding (function)

0.000000 nucleus (component)

0.000000 nucleolus (component)

0.000000 cytoplasm (component)

0.000000 centrosome (component)

0.000000 intracellular protein transport (process)

0.000000 nucleocytoplasmic transport (process)

0.000017 response to stress (process)

0.000000 centrosome cycle (process)

0.000000 cell aging (process)

0.000000 negative regulation of cell proliferation (process)

0.000000 Tat protein binding (function)

0.000000 ribosome assembly (process)

0.000000 protein homodimerization activity (function)

0.000000 protein heterodimerization activity (function)

0.000000 NF-kappaB binding (function)

0.000000 unfolded protein binding (function)

0.000000 activation of NF-kappaB transcription factor (process)
BLASTX hits:

E-value 2e-87 prot=1..256 DNA=14612400..14611666 fr=294 per=177/256 [EST]

E-value 2e-87 prot=265..292 DNA=14611642..14611559 fr=294 per=25/28 [EST]

---

CANDIDATE 10
DNA (Note)
R-score = 0.018699; GO-score = 0.000017

0 bp

Chromosome X

24700000 bp

1 aa

NP_651601

787 aa

Similarity found to protein:
[43354|NP_651601] | Drosophila melanogaster | Glycoprotein 93 CG5520-PA | length=787 aa
GO annotation:

0.000000 ATP binding (function)

0.000000 protein folding (process)

0.000000 protein complex assembly (process)

0.000017 response to stress (process)

0.000000 defense response (process)

0.000000 unfolded protein binding (function)
BLASTX hits:

E-value 4e-17 prot=444..698 DNA=16253106..16252369 fr=787 per=81/277 [EST]