SUPERFAMILY 1.75 HMM library and genome assignments server

Disease Ontology (DO): genetic disease

(show info)

Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Root: DO Hierarchy (disease ontology from University of Maryland)

Shortest distance to current term (+ for parents, - for children) DO term [DO ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ 1:   disease [DOID:4] <8>
0:   genetic disease [DOID:630] <9>(21|27) (22|17|8)
- 1:   chromosomal disease [DOID:0080014] <15>(2|2) (2|1|0)
- 1:   monogenic disease [DOID:0050177] <6>(19|25) (20|16|8)
- 1:   Coffin-Siris syndrome [DOID:1925](0|0) (0|0|0)
- 1:   Cornelia de Lange syndrome [DOID:11725](0|0) (0|0|0)
- 1:   Wolfram syndrome [DOID:10632](0|0) (0|0|0)
- 1:   malignant hyperthermia [DOID:8545](0|0) (0|0|0)
- 1:   maturity-onset diabetes of the young [DOID:0050524](0|0) (0|0|0)
- 1:   orofaciodigital syndrome [DOID:4501](0|0) (0|0|0)
- 1:   rhizomelic chondrodysplasia punctata [DOID:2580](0|0) (0|0|0)


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Superfamily

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
BRCT domain0.0000009509Direct
Nuclear receptor coactivator interlocking domain0.0003398Direct
Globin-like0.0004018Direct
E2F-DP heterodimerization region0.001389Inherited
ABC transporter transmembrane region0.001548Inherited
Protein kinase-like (PK-like)0.005899Inherited
Triple coiled coil domain of C-type lectins0.006551Inherited
GroEL equatorial domain-like0.006914Inherited
MHC antigen-recognition domain0.01612Inherited
Heme-dependent peroxidases0.03832Inherited
FnI-like domain0.05272Inherited
SMAD/FHA domain0.05899Inherited
Complement control module/SCR domain0.1414Inherited
Intermediate filament protein, coiled coil region0.1444Inherited
Voltage-gated potassium channels0.3171Inherited
Nicotinic receptor ligand binding domain-like0.4186Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.4186Inherited
PDZ domain-like0.6176Inherited
TPR-like0.7939Inherited
Immunoglobulin0.9594Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
p53 DNA-binding domain-like0Direct
L domain0.00003747Direct
Nuclear receptor coactivator interlocking domain0.0002343Direct
Globins0.0002846Direct
E2F dimerization segment0.0009646Direct
Long-chain cytokines0.001154Inherited
ABC transporter transmembrane region0.001641Inherited
Single strand DNA-binding domain, SSB0.004783Inherited
Triple coiled coil domain of C-type lectins0.004783Inherited
RecA protein-like (ATPase-domain)0.01021Inherited
DNA gyrase/MutL, N-terminal domain0.01055Inherited
DNA gyrase/MutL, second domain0.01055Inherited
C1 set domains (antibody constant domain-like)0.01278Inherited
MHC antigen-recognition domain0.01278Inherited
Fibronectin type II module0.01428Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.02123Inherited
Myeloperoxidase-like0.03044Inherited
VWC domain0.03044Inherited
FHA domain0.0672Inherited
Voltage-gated potassium channels0.114Inherited
Complement control module/SCR domain0.125Inherited
Intermediate filament protein, coiled coil region0.1277Inherited
Nicotinic receptor ligand binding domain-like0.3888Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3888Inherited
PDZ domain0.4562Inherited
Tetratricopeptide repeat (TPR)0.6478Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
Plot tree as:   Download Newick format tree:
(show help)

Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
p53 tetramerization domain0Direct
BRCT domain0.0000004753Direct
Nuclear receptor coactivator interlocking domain0.000199Direct
Globin-like0.0002367Direct
E2F-DP heterodimerization region0.0008619Direct
ABC transporter transmembrane region0.0009654Direct
Protein kinase-like (PK-like)0.003942Inherited
Triple coiled coil domain of C-type lectins0.004373Inherited
GroEL equatorial domain-like0.004617Inherited
MHC antigen-recognition domain0.01122Inherited
p53-like transcription factors0.01678Inherited
Heme-dependent peroxidases0.02818Inherited
FnI-like domain0.03975Inherited
SMAD/FHA domain0.04483Inherited
Complement control module/SCR domain0.1138Inherited
Intermediate filament protein, coiled coil region0.1164Inherited
Voltage-gated potassium channels0.2687Inherited
Nicotinic receptor ligand binding domain-like0.3616Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.3616Inherited
PDZ domain-like0.55Inherited
TPR-like0.7231Inherited
Immunoglobulin0.8918Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
49417,47719
  • 49417 - p53-like transcription factors
  • 47719 - p53 tetramerization domain
  • 0Direct
    52113,52113
  • 52113 - BRCT domain
  • 52113 - BRCT domain
  • 0Direct
    52058,57184
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.00003097Direct
    57184,52058
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.00003097Direct
    46785,144074
  • 46785 - "Winged helix" DNA-binding domain
  • 144074 - E2F-DP heterodimerization region
  • 0.0008619Direct
    90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0009654Direct
    52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.001082Inherited
    55785,55785
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.0011Inherited
    57944,56436
  • 57944 - Triple coiled coil domain of C-type lectins
  • 56436 - C-type lectin-like
  • 0.004373Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.005252Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.00628Inherited
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.008109Inherited
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.01755Inherited
    48371,48371
  • 48371 - ARM repeat
  • 48371 - ARM repeat
  • 0.07719Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.081Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.2424Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.3616Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52058,57184,52058
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.00003097Direct
    52540,52540,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0008619Direct
    57184,52058,57184
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.001249Inherited
    57184,57196,57184
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 0.004373Inherited
    47459,55785,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.004617Inherited
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.008109Inherited
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.008109Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.2424Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
    (show help)