SUPERFAMILY 1.75 HMM library and genome assignments server

Phenotypic Abnormality (PA): Abnormality of the musculature

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ 1:   Phenotypic abnormality [HP:0000118] <21>
0:   Abnormality of the musculature [HP:0003011] <8>(23|35) (25|14|6)
- 1:   Abnormality of muscle morphology [HP:0011805] <16>(10|14) (12|8|3)
- 1:   Abnormality of muscle physiology [HP:0011804] <11>(17|23) (18|8|3)
- 1:   Abnormality of facial musculature [HP:0000301] <8>(1|1) (1|1|0)
- 1:   Abnormality of the musculature of the limbs [HP:0009127] <4>(0|0) (0|0|0)
- 1:   Muscle abnormality related to mitochondrial dysfunction [HP:0003800] <4>(0|0) (0|0|0)
- 1:   Abnormality of the musculature of the neck [HP:0011006] <3>(1|1) (1|1|0)
- 1:   Abnormality of the musculature of the pelvis [HP:0001469] <3>(0|0) (0|0|0)
- 1:   Abnormality of the musculature of the thorax [HP:0009131] <3>(0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
CoA-dependent acyltransferases0Direct
Rudiment single hybrid motif0Direct
4Fe-4S ferredoxins0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Troponin coil-coiled subunits0Direct
Single hybrid motif0Direct
Eukaryotic type KH-domain (KH-domain type I)0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
HSP20-like chaperones0Direct
FKBP-like0Direct
LEM domain0Direct
Smc hinge domain0Direct
Nucleotide-diphospho-sugar transferases0.0003777Direct
Acyl-CoA dehydrogenase NM domain-like0.002814Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.002814Inherited
Tropomyosin0.005731Inherited
Calponin-homology domain, CH-domain0.09543Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1343Inherited
Nicotinic receptor ligand binding domain-like0.1343Inherited
MIR domain0.187Inherited
Spectrin repeat0.1967Inherited
vWA-like0.6079Inherited
RING/U-box0.7112Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Biotin dependent carboxylase carboxyltransferase domain0Direct
Cytoplasmic domain of inward rectifier potassium channel0Direct
Extended AAA-ATPase domain0Direct
Biotinyl/lipoyl-carrier proteins and domains0Direct
Smc hinge domain0Direct
LEM domain0Direct
BC C-terminal domain-like0Direct
CAT-like0Direct
Troponin T0Direct
Myotubularin-like phosphatases0Direct
BC N-terminal domain-like0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
FKBP immunophilin/proline isomerase0Direct
Choline/Carnitine O-acyltransferase0Direct
Eukaryotic type KH-domain (KH-domain type I)0Direct
Ferredoxin domains from multidomain proteins0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
beta-glycanases0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
p120GAP domain-like0Direct
Amylase, catalytic domain0Direct
BC ATP-binding domain-like0Direct
Tropomyosin0.003822Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.003822Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.003822Inherited
Myosin rod fragments0.01567Inherited
LIM domain0.0338Inherited
Calponin-homology domain, CH-domain0.07887Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1132Inherited
Nicotinic receptor ligand binding domain-like0.1132Inherited
Spectrin repeat0.116Inherited
Pyrin domain, PYD0.1603Inherited
MIR domain0.1603Inherited
DBL homology domain (DH-domain)0.337Inherited
Integrin A (or I) domain0.4735Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
CoA-dependent acyltransferases0Direct
LEM domain0Direct
Smc hinge domain0Direct
Eukaryotic type KH-domain (KH-domain type I)0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
4Fe-4S ferredoxins0Direct
FKBP-like0Direct
Rudiment single hybrid motif0Direct
HSP20-like chaperones0Direct
Troponin coil-coiled subunits0Direct
Single hybrid motif0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Nucleotide-diphospho-sugar transferases0.0001964Direct
Acyl-CoA dehydrogenase NM domain-like0.001705Inherited
Acyl-CoA dehydrogenase C-terminal domain-like0.001705Inherited
Tropomyosin0.0037Inherited
Myosin rod fragments0.01517Inherited
Actin-like ATPase domain0.03718Inherited
Calponin-homology domain, CH-domain0.07745Inherited
Nicotinic receptor ligand binding domain-like0.1119Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.1119Inherited
MIR domain0.1593Inherited
Spectrin repeat0.1684Inherited
vWA-like0.5731Inherited
RING/U-box0.6785Inherited

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Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    63825,57196
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 0Direct
    52777,52777
  • 52777 - CoA-dependent acyltransferases
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0Direct
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0Direct
    49265,48726
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0.001705Inherited
    50729,50729
  • 50729 - PH domain-like
  • 50729 - PH domain-like
  • 0.03358Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.0709Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.1119Inherited
    57196,57196
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.1466Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.1593Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    48726,49265,48726
  • 48726 - Immunoglobulin
  • 49265 - Fibronectin type III
  • 48726 - Immunoglobulin
  • 0Direct
    57196,63825,57196
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 0Direct
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.03358Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.0709Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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