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Relevance to Autism

De novo missense variants in the DEAF1 gene that resulted in impaired transcriptional regulation of the DEAF1 promoter were identified in four individuals with intellectual disability, mild motor delay, and severely affected speech development; three of these individuals also displayed severe behavioral problems consisting of autistic, hyperactive, compulsive, and aggressive behavior with striking mood swings and poor eye contact (Vulto-van Silfhout et al., 2014; Rauch et al., 2012; Vissers et al., 2010).

Molecular Function

Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene and down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
ID
ASD or autistic behavior
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND...
ID
Epilepsy/seizures, ASD
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD
Support
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
ID
Epilepsy/seizures
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
ASD, ID, structural brain abnormalities
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Support
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T...
ID
Microcephaly
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
A de novo paradigm for mental retardation.
ID
Support
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
ID, epilepsy/seizures, autistic behavior
Dyskinesia, absent speech
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
ASD
Recent Recommendation
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Autosomal dominant mental retardation-24, Dyskines
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN610R001 
 missense_variant 
 c.670C>T 
 p.Arg224Trp 
 De novo 
  
 Simplex 
 GEN610R002 
 missense_variant 
 c.762A>C 
 p.Arg254Ser 
 De novo 
  
 Simplex 
 GEN610R003 
 missense_variant 
 c.683T>G 
 p.Ile228Ser 
 De novo 
  
 Simplex 
 GEN610R004 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
 Simplex 
 GEN610R005 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R006 
 missense_variant 
 c.658G>A 
 p.Gly220Ser 
 De novo 
  
 Simplex 
 GEN610R007 
 missense_variant 
 c.656T>C 
 p.Leu219Pro 
 De novo 
  
 Simplex 
 GEN610R008 
 missense_variant 
 c.791A>C;c.153A>C 
 p.Gln264Pro;p.Gln52Pro 
 De novo 
  
 Unknown 
 GEN610R009 
 splice_site_variant 
 c.290-3C>G 
 p.Glu97ValfsTer3 
 Familial 
 Maternal 
 Simplex 
 GEN610R010 
 splice_site_variant;splice_site_variant 
 c.[997+4A>C];[997+4A>C] 
 p.[Gly292ProfsTer];[Gly292ProfsTer] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R011 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R012 
 splice_site_variant;splice_site_variant 
 c.[997+4A>C];[997+4A>C] 
 p.? 
 Familial 
 Both parents 
  
 GEN610R013 
 missense_variant 
 c.775C>T 
 p.Ala259Thr 
 De novo 
  
 Simplex 
 GEN610R014 
 missense_variant 
 c.764C>T 
 p.Ser255Asn 
 De novo 
  
  
 GEN610R015 
 missense_variant 
 c.739C>T 
 p.Ala247Thr 
 De novo 
  
  
 GEN610R016 
 missense_variant 
 c.635C>T 
 p.Gly212Asp 
 De novo 
  
  
 GEN610R017 
 missense_variant 
 c.667C>T 
 p.Gly223Ser 
 Familial 
 Maternal 
  
 GEN610R018 
 missense_variant 
 c.776G>A 
 p.Ala259Val 
 Familial 
 Paternal 
 Simplex 
 GEN610R019 
 missense_variant 
 c.754A>G 
 p.Trp252Arg 
 Unknown 
 Not maternal 
  
 GEN610R020 
 missense_variant 
 c.769G>C 
 p.Arg257Gly 
 Unknown 
  
  
 GEN610R021 
 missense_variant 
 c.596T>C 
 p.Tyr199Cys 
 Unknown 
  
  
 GEN610R022 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
 Simplex 
 GEN610R023 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
  
 GEN610R024 
 missense_variant 
 c.700T>A 
 p.Trp234Arg 
 De novo 
  
 Simplex 
 GEN610R025 
 missense_variant 
 c.737G>C 
 p.Arg246Thr 
 De novo 
  
 Simplex 
 GEN610R026 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
 Simplex 
 GEN610R027 
 inframe_deletion 
 c.913_915del 
 p.Lys305del 
 De novo 
  
 Multiplex 
 GEN610R028 
 splice_site_variant 
 c.664+2T>G 
 p.? 
 De novo 
  
 Simplex 
 GEN610R029 
 splice_site_variant 
 c.664+2T>G 
 p.? 
 De novo 
  
  
 GEN610R030 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
  
 GEN610R031 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
  
 GEN610R032 
 missense_variant 
 c.637A>C 
 p.Thr213Pro 
 De novo 
  
  
 GEN610R033 
 missense_variant 
 c.640C>G 
 p.Leu214Val 
 De novo 
  
  
 GEN610R034 
 missense_variant 
 c.641T>C 
 p.Leu214Pro 
 De novo 
  
  
 GEN610R035 
 missense_variant 
 c.646A>G 
 p.Lys216Glu 
 De novo 
  
  
 GEN610R036 
 missense_variant 
 c.648G>T 
 p.Lys216Asn 
 De novo 
  
  
 GEN610R037 
 splice_site_variant 
 c.664+1G>T 
 p.Pro174_Gly222del 
 De novo 
  
  
 GEN610R038 
 missense_variant 
 c.674G>A 
 p.Gly225Glu 
 De novo 
  
  
 GEN610R039 
 missense_variant 
 c.683T>C 
 p.Ile228Thr 
 De novo 
  
  
 GEN610R040 
 missense_variant 
 c.706A>G 
 p.Ser236Gly 
 De novo 
  
  
 GEN610R041 
 missense_variant 
 c.757A>G 
 p.Lys253Glu 
 De novo 
  
  
 GEN610R042 
 inframe_deletion 
 c.762_764delAAG 
 p.Arg254del 
 De novo 
  
  
 GEN610R043 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
  
 GEN610R044 
 missense_variant 
 c.815T>C 
 p.Leu272Ser 
 De novo 
  
  
 GEN610R045 
 missense_variant 
 c.826G>C 
 p.Ala276Pro 
 De novo 
  
  
 GEN610R046 
 missense_variant 
 c.826G>C 
 p.Ala276Pro 
 De novo 
  
  
 GEN610R047 
 frameshift_variant;frameshift_variant 
 c.[1104_1105dup];[1617dup] 
 p.[Asp369AlafsTer51];[Cys540MetfsTer18] 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN610R048 
 frameshift_variant;inframe_deletion 
 c.[130delA];[1580_1582delTCT] 
 p.[Arg44GlyfsTer25];[Phe527del] 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN610R049 
 stop_gained;missense_variant 
 c.[701G>A];[716A>G] 
 p.[Trp234Ter];[Glu239Gly] 
 Unknown 
  
 Simplex 
 GEN610R050 
 missense_variant;missense_variant 
 c.[671G>A];[671G>A] 
 p.[Arg224Gln];[Arg224Gln] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R051 
 splice_site_variant 
 c.870+1G>A 
 p.? 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 20
 
11
Duplication
 1
 
11
Duplication
 1
 

Model Summary

Maternal or zygotic DEAF-1 mutation results in early embryonic lethality prior to the expression of zygotic segmentation genes. Embryos that do no succumb to lethality develop into larvae with segmentation defects of variable severity. Embryonic overexpression of DEAF1 leads to defects in closure of the dorsal epidermis. Adult overexpression of DEAF1 leads to defects in eye and wing development.

References

Type
Title
Author, Year
Primary
DEAF-1 function is essential for the early embryonic development of Drosophila.

F-69B-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the embryo using 69B-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_A9-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the wing and earlier larval pattern using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_arm-GAL4^4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the embryo using arm-GAL4^4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_DEAF-1^k3_mat-/zyg-

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies bearing the Deaf1^k3 mutation in the maternal and zygotic lineage. K3 mutant flies have a G to A transition that changes a cysteine codon TGT (amino acid 262) to a tyrosine codon TAT in the DEAF-1 open reading frame. FLP-DFS system was used to eliminate maternal DEAF-1^k3 allele. The k3 mutation was recombined onto a chromosome with an FRT2A insert on 3L and used to generate maternal homozygous germline clones.
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_DEAF-1^k3_PcG

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF-1^k3 mutant fly line was crossed with PcG lines in standard Pc genetic interaction tests.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_DEAF-1^S10B/Df(3L)25-21_mat+/zyg-

Model Type: Genetic
Model Genotype: Transheterozygous
Mutation: Transheterozygotes bearing the Deaf1 S10B mutant allele and the Deaf1 Df(3L)25-21 mutant allele. Flies with deletion, Df(3L)25-21, that removes a genomic region flanking the left side of the L0189 P element, including the entire DEAF-1 locus. The absence of DEAF-1 sequences on the Df(3L)25-21 chromosome was confirmed by Southern blot analysis. Df(3L)25-21 uncover five lethal complementation groups including tricorner (trc) and kohtalo (kto).
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_DEAF-1^S10B_mat-/zyg-

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies bearing the Deaf1^S10B mutation in the maternal and zygotic lineage. S10B mutant flies have a G to A transition changes a tryptophan codon TGG (amino acid 400) to a stop codon TGA in the DEAF-1 open reading frame.FLP-DFS system was used to eliminate maternal DEAF-1^S10B allele. The S10B mutation was recombined onto a chromosome with an FRT2A insert on 3L and used to generate maternal homozygous germline clones.
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_DEAF-1^S10B_PcG

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF-1^S10B mutant fly line was crossed with PcG lines in standard Pc genetic interaction tests.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_Df(3L)25-21_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Flies with deletion, Df(3L)25-21, that removes a genomic region flanking the left side of the L0189 P element, including the entire DEAF-1 locus. The absence of DEAF-1 sequences on the Df(3L)25-21 chromosome was confirmed by Southern blot analysis. Df(3L)25-21 uncover five lethal complementation groups including tricorner (trc) and kohtalo (kto).
Allele Type: Knockout
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_Dll^md23-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the distal appendage regions using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_dpp^disc-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the anterior/posterior boundary of most discs using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_MS1096-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the wing using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_pGMR-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the eye using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_sca-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the imaginal disc cells using sca-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_sev-GAL4/UAS-DEAF-1

Model Type: Genetic
Model Genotype: Not specified
Mutation: DEAF1 was over-expressed in the photoreceptors using pGMR-GAL4.
Allele Type: Overexpression
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F-69B-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General characteristics1
 No change
 Immunostaining
 embryonic stage 14
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_A9-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: A9-GAL4/UAS-DEAF-1 combinations were lethal at all temperatures tested.
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_arm-GAL4^4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Skeletal development: germ band retraction1
Decreased
Description: At 29 degrees C, embryos over-expressing Deaf1 under arm-GAL4^4 exhibit incomplete germ band retraction compared to controls.
Exp Paradigm: Cuticular preparation
 Immunostaining
 embryonic stage
Skeletal development: dorsal closure1
Decreased
Description: At 29 degrees C, embryos over-expressing Deaf1 under arm-GAL4^4 exhibit lack of dorsal closure compared to controls.
Exp Paradigm: Cuticular preparation
 Immunostaining
 embryonic stage
Targeted expression1
Decreased
Description: Mutants show decrease in Deaf1 expression compared to controls.
 Immunostaining
 third instar larval stage
General characteristics1
 No change
 Immunostaining
 embryonic stage 14
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_DEAF-1^k3_mat-/zyg-

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: embryonic1
Increased
Description: Mutants show developmental arrest at early stages of embryogenesis, prior to the onset of gastrulation and germ band extension.
 General observations
 embryonic stage
Mortality/lethality1
Decreased
Description: Mutants show decreased viability compared to controls.
 Survival analysis
 pupal stage
Developmental trajectory: segmentation1
Abnormal
Description: The few maternal-/zygotic- DEAF-1^k3 embryos that complete embryogenesis reveal segmental pattern defects that range from mild to very severe.
 Immunostaining
 larval stage
Targeted expression1
Decreased
Description: Mutants show reduced DEAF1 protein expression compared to controls. Residual DEAF-1 protein levels in maternal-/zygotic- DEAF-1^k3 mutant embryos was higher than for S10B and approached that in Df(3L)25-21 heterozygotes.
 Immunostaining
 embryonic stage 14
Gene expression1
Decreased
Description: >50% mutants did not show any segmentation gene transcripts compared to controls. Mutant embryos showed variable loss of pattern elements from the expression patterns of three early zygotic patterning genes compared to controls.
 Immunostaining
 embryonic stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_DEAF-1^k3_PcG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Skeletal development: sex comb development1
 No change
 Macroscopic analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_DEAF-1^S10B/Df(3L)25-21_mat+/zyg-

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental trajectory: eclosion1
Decreased
Description: Mutants do not emerge as adults from the pupal stage, compared to controls that eclose normally.
 Microscopic analysis
 pupal stage
Developmental trajectory: segmentation1
 No change
 Immunostaining
 first instar larval stage
General characteristics1
 No change
 Microscopic analysis
 pharate adult stage
Size/growth1
 No change
 Microscopic analysis
 larval stage
Size/growth1
 No change
 Microscopic analysis
 late third instar larval stage
Size/growth1
 No change
 Microscopic analysis
 pupal stage
Size/growth1
 No change
 Immunostaining
 first instar larval stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_DEAF-1^S10B_mat-/zyg-

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: embryonic1
Increased
Description: Mutants show developmental arrest at early stages of embryogenesis, prior to the onset of gastrulation and germ band extension.
 General observations
 embryonic stage
Mortality/lethality1
Decreased
Description: Mutants show decreased viability compared to controls.
 Survival analysis
 pupal stage
Developmental trajectory: segmentation1
Abnormal
Description: The few maternal-/zygotic- DEAF-1^S10B embryos that complete embryogenesis reveal segmental pattern defects that range from mild to very severe.
 Immunostaining
 larval stage
Targeted expression1
Decreased
Description: Mutants show reduced DEAF1 protein expression compared to controls. Residual DEAF-1 protein levels in maternal-/zygotic- DEAF-1^k3 mutant embryos was higher than for S10B and approached that in Df(3L)25-21 heterozygotes.
 Immunostaining
 embryonic stage 14
Gene expression1
Decreased
Description: >50% mutants did not show any segmentation gene transcripts compared to controls. Mutant embryos showed variable loss of pattern elements from the expression patterns of three early zygotic patterning genes compared to controls.
 Immunostaining
 embryonic stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_DEAF-1^S10B_PcG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Skeletal development: sex comb development1
 No change
 Macroscopic analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_Df(3L)25-21_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Size/growth1
Decreased
Description: Mutants are smaller than controls.
 Microscopic analysis
 embryonic stage
General characteristics1
Abnormal
Description: Mutants show defects in patterning of dorsal hairs of the cuticle compared to controls.
 General observations
 embryonic stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_Dll^md23-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Dll^md23/UAS-DEAF-1 combinations were lethal at all temperatures tested.
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_dpp^disc-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Bristle morphogenesis1
Decreased
Description: Mutants exhibit a loss of dorsal thoracic and scutellar macrochaete bristles compared to controls.
 Microscopic analysis
 adult stage
Mortality/lethality1
Increased
Description: The dpp^disc-GAL4/UAS-DEAF-1 cross gave very few survivors.
 Survival analysis
 pupal stage
Appendage development: Wing vein development1
Abnormal
Description: Mutants bear wider third veins compared to controls.
 Microscopic analysis
 adult stage
Appendage development: Wing vein development1
Abnormal
Description: Mutants bear curly wings compared to controls.
 Microscopic analysis
 adult stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_MS1096-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Bristle morphogenesis1
Abnormal
Description: Mutants show defective macrochaete compared to controls.
 Scanning electron microscopy
 adult stage
Appendage development: Wing vein development1
Decreased
Description: Mutants exhibit rudimentary wing structures compared to controls.
 Scanning electron microscopy
 adult stage
Mortality/lethality1
 No change
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_pGMR-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
Abnormal
Description: Mutants exhibit rough eye phenotype compared to controls.
 Scanning electron microscopy
 adult stage
Eye development:compound eye morphogenesis1
Decreased
Description: Mutants exhibit loss of ommatidia compared to controls.
 Scanning electron microscopy
 adult stage
Mortality/lethality1
 No change
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_sca-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: The dpp^disc-GAL4/UAS-DEAF-1 cross gave very few survivors.
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

F_sev-GAL4/UAS-DEAF-1

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Eye development:compound eye morphogenesis1
Abnormal
Description: Mutants show a weak rough eye phenotype, with a smooth and lightly colored anterior-central region of the eye compared to controls.
 Scanning electron microscopy
 adult stage
Mortality/lethality1
 No change
 Survival analysis
 pupal stage
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 7965 Q13155 Y2H
Vinayagam A , et al. 2011
ASCC2 activating signal cointegrator 1 complex subunit 2 84164 Q9H1I8 Y2H
Stelzl U , et al. 2005
BSPRY B box and SPRY domain-containing protein 54836 Q5W0U4 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC37 cell division cycle 37 11140 Q16543 Y2H
Vinayagam A , et al. 2011
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1026 P38936 Y2H
Vinayagam A , et al. 2011
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 1029 P42771 Y2H; IP/WB
Wang J , et al. 2011
FHL1 four and a half LIM domains 1 2273 Q13642 Y2H
Vinayagam A , et al. 2011
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GDF5 growth differentiation factor 5 8200 P43026 EMSA
Reynard LN , et al. 2014
GSK3A glycogen synthase kinase 3 alpha 2931 P49840 Y2H; GST; IP/WB; Luciferase reporter assay; in vitro kinase assay
Pilot-Storck F , et al. 2010
GSK3B glycogen synthase kinase 3 beta 2932 P49841 Y2H; GST; IP/WB; Luciferase reporter assay; in vitro kinase assay
Pilot-Storck F , et al. 2010
HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 3265 P01112 Y2H
Vinayagam A , et al. 2011
HRSP12 heat-responsive protein 12 10247 P52758 Y2H
Wang J , et al. 2011
IRF3 interferon regulatory factor 3 3661 Q14653 IP/WB
Ordureau A , et al. 2013
IRF7 interferon regulatory factor 7 3665 Q92985 IP/WB
Ordureau A , et al. 2013
PELI1 pellino E3 ubiquitin protein ligase 1 57162 Q53T26 IP/WB
Ordureau A , et al. 2013
PELI2 pellino E3 ubiquitin protein ligase family member 2 57161 Q9H716 Y2H
Wang J , et al. 2011
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 5300 Q13526 Y2H
Vinayagam A , et al. 2011
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme 5499 P62136 Y2H
Esteves SL , et al. 2012
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme 5501 P36873 Y2H
Esteves SL , et al. 2012
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 Y2H
Vinayagam A , et al. 2011
TK1 thymidine kinase 1, soluble 7083 P04183 Y2H
Vinayagam A , et al. 2011
DEAF1 deformed epidermal autoregulatory factor 1 (Drosophila) 54006 Q9Z1T5 Y2H; SEC-MALLS
Cubeddu L , et al. 2012
LMO4 LIM domain only 4 16911 P61969 GST; IP/WB; Y2H
GST; IP/WB; Y2H; SEC-MALLS
GST; IP/WB; Y2H
Y2H; SEC-MALLS
Sugihara TM , et al. 1998
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM , et al. 2011

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