CHROMOSOMAL REGION Disease mapped: Anisomastia Method: Md Chromosome: 16 Genomic position start-stop: 54600000-64600000 length: 10000001 Band: 16q13-q21

LINKS EntrezGene: [80871] MEDLINE: OMIM: [605746] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY

A set of 1 papers related to this disease was derived from MEDLINE using the query:
Anisomastia [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). Puberty, Precocious [1] Hirsutism [1] Growth Disorders [1] Breast Diseases [1] Acne Vulgaris [1] Oligomenorrhea [1] Endocrine Diseases [1] Obesity [1] Menstruation Disturbances [1] Amenorrhea [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. 0.002082 luteinizing hormone-releasing factor activity (function) 0.001919 androgen binding (function) 0.001710 sodium-independent organic anion transporter activity (function) 0.001476 protein-arginine deiminase activity (function) 0.001363 gonadotropin-releasing hormone receptor activity (function) 0.001286 growth hormone receptor binding (function) 0.001094 estrone sulfotransferase activity (function) 0.000961 hormone activity (function) 0.000917 translation activator activity (function) We show here only the top 10. You can also see the complete list of 388 GO terms. Each name is linked to the corresponding term description by GO. The number indicates the strength of association to Anisomastia. 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?

0.000040 catalytic activity (function)

0.000129 lipid metabolism (process)

0.000146 lipid transport (process)

0.000410 steroid metabolism (process)

0.000508 cholesterol metabolism (process)

0.000043 lipid binding (function)
BLASTX hits:

E-value 7e-27 prot=250..318 DNA=55564742..55564942 fr=493 per=62/69 [EST]

E-value 3e-24 prot=76..147 DNA=55560792..55561097 fr=493 per=69/102 [EST]

E-value 4e-22 prot=327..380 DNA=55569502..55569663 fr=493 per=53/54 [EST]

E-value 5e-12 prot=25..77 DNA=55554369..55554536 fr=493 per=42/56 [EST]

---

CANDIDATE 2
DNA (Note) PROTEIN: [NP_065858]
R-score = 0.054830; GO-score = 0.000322

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_477245

891 aa

Similarity found to protein:
[34592|NP_477245] | Drosophila melanogaster | crol-P3 CG14938-PC | length=891 aa
GO annotation:

0.000082 skeletal development (process)

0.000000 nucleic acid binding (function)

0.000084 RNA polymerase II transcription factor activity (function)

0.000046 nucleus (component)

0.000046 regulation of transcription from RNA polymerase II promoter (process)

0.000000 cell adhesion (process)

0.000000 wing morphogenesis (process)

0.000322 mesoderm development (process)

0.000000 zinc ion binding (function)

0.000043 cell proliferation (process)

0.000000 homoiothermy (process)

0.000000 ice binding (function)

0.000000 response to freezing (process)
BLASTX hits:

E-value 2e-74 prot=223..651 DNA=56589356..56588019 fr=891 per=145/449 [EST]

E-value 7e-56 prot=273..683 DNA=56589458..56588271 fr=891 per=122/412 [EST]

E-value 2e-33 prot=214..510 DNA=56588750..56588019 fr=891 per=89/299 [EST]

---

CANDIDATE 3
DNA (Note) PROTEIN: [NP_066268] [NP_620073]
R-score = 0.059030; GO-score = 0.000301

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_002061

355 aa

Similarity found to protein:
[2771|NP_002061] | Homo sapiens | guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 | length=355 aa
GO annotation:

0.000089 nucleotide binding (function)

0.000045 GTPase activity (function)

0.000168 signal transducer activity (function)

0.000048 GTP binding (function)

0.000086 signal transduction (process)

0.000072 G-protein coupled receptor protein signaling pathway (process)

0.000144 negative regulation of adenylate cyclase activity (process)

0.000301 response to nutrient (process)
BLASTX hits:

E-value 3e-20 prot=242..293 DNA=54932248..54932403 fr=355 per=48/52 [EST]

E-value 4e-17 prot=242..293 DNA=54942798..54942953 fr=355 per=45/52 [EST]

E-value 2e-15 prot=283..355 DNA=54946249..54946464 fr=355 per=43/73 [EST]

E-value 7e-13 prot=281..353 DNA=54935149..54935355 fr=355 per=41/73 [EST]

E-value 3e-12 prot=197..239 DNA=54928140..54928268 fr=355 per=36/43 [EST]

---

CANDIDATE 4
DNA (Note)
R-score = 0.065071; GO-score = 0.000291

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_542446

385 aa

Similarity found to protein:
[117294|NP_542446] | Drosophila melanogaster | Dorsal switch protein 1 CG12223-PC | length=385 aa
GO annotation:

0.000000 chromatin (component)

0.000291 chromatin binding (function)

0.000000 single-stranded DNA binding (function)

0.000074 transcription corepressor activity (function)

0.000046 nucleus (component)

0.000000 DNA unwinding during replication (process)

0.000000 chromatin assembly or disassembly (process)

0.000046 regulation of transcription from RNA polymerase II promoter (process)
BLASTX hits:

E-value 8e-20 prot=170..309 DNA=56194573..56194965 fr=385 per=60/140 [EST]

---

CANDIDATE 5
DNA (Note) PROTEIN: [NP_001788] [NP_387513]
R-score = 0.069559; GO-score = 0.000289

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_476722

1507 aa

Similarity found to protein:
[37386|NP_476722] | Drosophila melanogaster | shg-P1 CG3722-PA | length=1507 aa
GO annotation:

0.000000 optic placode development (sensu Endopterygota) (process)

0.000000 morphogenesis of an epithelium (process)

0.000033 receptor activity (function)

0.000000 structural molecule activity (function)

0.000040 calcium ion binding (function)

0.000000 plasma membrane (component)

0.000000 integral to plasma membrane (component)

0.000000 adherens junction (component)

0.000000 cell-cell adherens junction (component)

0.000000 spot adherens junction (component)

0.000000 zonula adherens (component)

0.000000 homophilic cell adhesion (process)

0.000000 establishment and/or maintenance of cell polarity (process)

0.000086 signal transduction (process)

0.000000 pole cell migration (process)

0.000000 follicle cell migration (sensu Insecta) (process)

0.000000 border follicle cell migration (sensu Insecta) (process)

0.000000 oocyte anterior/posterior axis determination (process)

0.000031 nervous system development (process)

0.000000 axon guidance (process)

0.000000 tracheal system development (sensu Insecta) (process)

0.000000 gonadal mesoderm development (process)

0.000000 heart development (process)

0.000000 beta-catenin binding (function)

0.000000 head involution (process)

0.000085 germ cell migration (process)

0.000000 asymmetric cell division (process)

0.000289 gonad development (process)

0.000000 oogenesis (sensu Insecta) (process)

0.000000 gastrulation (sensu Insecta) (process)

0.000015 integral to membrane (component)

0.000000 calcium-dependent cell-cell adhesion (process)

0.000000 cell projection biogenesis (process)

0.000000 female germ-line cyst encapsulation (sensu Insecta) (process)

0.000000 oocyte localization during oogenesis (process)

0.000000 somatic stem cell maintenance (process)

0.000000 tracheal branch fusion (process)

0.000000 germ-line stem cell division (process)

0.000000 somatic stem cell division (process)

0.000000 cell adhesion molecule binding (function)
BLASTX hits:

E-value 2e-16 prot=1341..1497 DNA=63539505..63539011 fr=1507 per=66/166 [EST]

---

CANDIDATE 6
DNA (Note) PROTEIN: [NP_005877] (Itself)
R-score = 0.077326; GO-score = 0.000247

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_005877

655 aa

Similarity found to protein:
[10300|NP_005877] | Homo sapiens | katanin p80 subunit B 1 | length=655 aa
GO annotation:

0.000000 spindle pole (component)

0.000000 cytoplasm (component)

0.000000 microtubule (component)

0.000247 protein targeting (process)

0.000000 negative regulation of microtubule depolymerization (process)

0.000000 cell cycle (process)

0.000000 mitosis (process)

0.000000 microtubule binding (function)

0.000000 katanin (component)

0.000000 microtubule-severing ATPase activity (function)

0.000000 positive regulation of microtubule depolymerization (process)

0.000000 protein heterodimerization activity (function)

0.000000 cell division (process)
BLASTX hits:

E-value 2e-36 prot=286..349 DNA=56344491..56344682 fr=655 per=64/64 [EST]

E-value 1e-23 prot=235..286 DNA=56344190..56344345 fr=655 per=51/52 [EST]

E-value 5e-40 prot=473..524 DNA=56346759..56346914 fr=655 per=51/52 [EST]

E-value 9e-16 prot=13..57 DNA=56333097..56333231 fr=655 per=43/45 [EST]

E-value 4e-13 prot=573..622 DNA=56347768..56347914 fr=655 per=43/50 [EST]

E-value 5e-12 prot=58..96 DNA=56335808..56335924 fr=655 per=39/39 [EST]

E-value 5e-40 prot=433..477 DNA=56346533..56346667 fr=655 per=41/45 [EST]

E-value 2e-13 prot=542..583 DNA=56347386..56347511 fr=655 per=27/42 [EST]

E-value 5e-40 prot=400..433 DNA=56346319..56346414 fr=655 per=27/34 [EST]

E-value 2e-36 prot=349..402 DNA=56344801..56344968 fr=655 per=48/56 [EST]

E-value 2e-13 prot=522..547 DNA=56347252..56347329 fr=655 per=25/26 [EST]

---

CANDIDATE 7
DNA (Note) PROTEIN: [NP_005541]
R-score = 0.077383; GO-score = 0.000247

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_476590

975 aa

Similarity found to protein:
[36810|NP_476590] | Drosophila melanogaster | Khc-P1 CG7765-PA | length=975 aa
GO annotation:

0.000000 motor activity (function)

0.000000 microtubule motor activity (function)

0.000000 structural constituent of cytoskeleton (function)

0.000058 ATP binding (function)

0.000000 kinesin complex (component)

0.000247 protein targeting (process)

0.000000 microtubule-based movement (process)

0.000000 neurotransmitter secretion (process)

0.000000 cytoplasmic transport, nurse cell to oocyte (process)

0.000000 oocyte dorsal/ventral axis determination (process)

0.000000 pole plasm assembly (process)

0.000000 regulation of pole plasm oskar mRNA localization (process)

0.000000 microtubule binding (function)

0.000000 plus-end-directed microtubule motor activity (function)

0.000000 action potential propagation (process)

0.000000 pole plasm oskar mRNA localization (process)
BLASTX hits:

E-value 7e-22 prot=231..308 DNA=56352373..56352143 fr=975 per=47/78 [EST]

E-value 7e-22 prot=176..233 DNA=56352624..56352451 fr=975 per=19/58 [EST]

---

CANDIDATE 8
DNA (Note)
R-score = 0.077613; GO-score = 0.000247

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_476656

237 aa

Similarity found to protein:
[33271|NP_476656] | Drosophila melanogaster | ninaA-P1 CG3966-PA | length=237 aa
GO annotation:

0.000000 peptidyl-prolyl cis-trans isomerase activity (function)

0.000000 membrane fraction (component)

0.000048 nuclear envelope (component)

0.000000 integral to plasma membrane (component)

0.000000 'de novo' protein folding (process)

0.000247 protein targeting (process)

0.000103 transport (process)

0.000000 defense response (process)

0.000000 phototransduction (process)

0.000079 phototransduction, visible light (process)

0.000000 cyclosporin A binding (function)

0.000015 integral to membrane (component)

0.000000 endoplasmic reticulum cisterna (component)

0.000000 cytoplasmic membrane-bound vesicle (component)

0.000000 rhabdomere (component)

0.000000 rhodopsin biosynthesis (process)
BLASTX hits:

E-value 3e-11 prot=109..191 DNA=63328441..63328683 fr=237 per=34/88 [EST]

E-value 3e-11 prot=53..99 DNA=63328280..63328417 fr=237 per=19/47 [EST]

---

CANDIDATE 9
DNA (Note)
R-score = 0.078016; GO-score = 0.000247

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_523366

165 aa

Similarity found to protein:
[32595|NP_523366] | Drosophila melanogaster | Cyclophilin 1 CG9916-PA | length=165 aa
GO annotation:

0.000000 peptidyl-prolyl cis-trans isomerase activity (function)

0.000000 cytoplasm (component)

0.000000 cytosol (component)

0.000000 protein folding (process)

0.000247 protein targeting (process)

0.000000 defense response (process)

0.000000 transcription elongation factor complex b (component)

0.000000 cyclin-dependent protein kinase regulator activity (function)

0.000000 nuclear cyclin-dependent protein kinase holoenzyme complex (component)

0.000000 salivary gland cell autophagic cell death (process)

0.000000 autophagic cell death (process)
BLASTX hits:

E-value 2e-30 prot=77..165 DNA=63328417..63328683 fr=165 per=45/89 [EST]

E-value 2e-30 prot=30..75 DNA=63328277..63328414 fr=165 per=31/46 [EST]

---

CANDIDATE 10
DNA (Note)
R-score = 0.079052; GO-score = 0.000247

54600000 bp

Chromosome 16

64600000 bp

1 aa

NP_523773

300 aa

Similarity found to protein:
[36984|NP_523773] | Drosophila melanogaster | cyclophilin-33 CG4886-PA | length=300 aa
GO annotation:

0.000000 mRNA binding (function)

0.000000 peptidyl-prolyl cis-trans isomerase activity (function)

0.000046 nucleus (component)

0.000000 protein folding (process)

0.000247 protein targeting (process)

0.000000 defense response (process)
BLASTX hits:

E-value 1e-24 prot=211..300 DNA=63328417..63328686 fr=300 per=42/90 [EST]

E-value 1e-24 prot=164..216 DNA=63328277..63328435 fr=300 per=27/53 [EST]