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Allele/Variant

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Species

Drosophila melanogaster55

Mus musculus14

Danio rerio1

Category

allele63

allele with one variant6

allele with multiple variants1

Variant Type

Molecular Consequence

5 prime UTR variant2

frameshift variant2

missense variant2

coding sequence variant1

splice region variant1

Diseases

disease of mental health70

monogenic disease70

syndrome13

cancer1

urinary system disease1

Genes

Construct Expressed Component

Construct Knockdown Component

Construct Regulatory Region

70 results

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Allele/Variant Diseases: autosomal dominant intellectual developmental disorder

Hsap\U2AF2^R149W.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398127

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Hsap\U2AF2^R150C.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398128

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Bptf^tm1.1Cwu

(Mus musculus)

Allele/Variant

Source: MGI:3841297

Genes: Bptf (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Variant Name: Not Available

Hsap\PPFIA3^{R39C.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398009

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

Disease (1)

Set1^HMS01837

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0278954

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with speech impairment and dysmorphic facies

Variant Name: Not Available

Disease (1)

Hsap\SUPT16H^T171I.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0388812

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Variant Name: Not Available

Disease (1)

Zbtb18^tm1.1Nda

(Mus musculus)

Allele/Variant

Source: MGI:5425228

Genes: Zbtb18 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

dre4^GL00017

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0262508

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Variant Name: Not Available

Disease (1)

Mbd5^{Gt(Ayu21-B205)Imeg}

(Mus musculus)

Allele/Variant

Source: MGI:3923358

Genes: Mbd5 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

U2af50^HMC03810

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0294369

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^{F56D.F58D.UAS}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390959

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^{V160M.UAS.GFP}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390972

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^V160M.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390968

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^G40V.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390965

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Ahdc1^em#Oro

(Mus musculus)

Allele/Variant

Source: MGI:7595527

Genes: Ahdc1 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Xia-Gibbs Syndrome

Variant Name: Not Available

Auts2^tm1Mhos

(Mus musculus)

Allele/Variant

Source: MGI:6156948

Genes: Auts2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder 26

Variant Name: Not Available

Bap60^HMS00909

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0257583

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Disease (1)

Hsap\PPFIA3^{A315S.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398010

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

Disease (1)

U2af50^JF02693

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0242281

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Hsap\PPFIA3^{R415W.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398011

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

Disease (1)

Sce^KO

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0268443

Genes: Sce (Dme)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Luo-Schoch-Yamamoto syndrome

Variant Name: Not Available

Bap60^HMS00507

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0248258

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Disease (1)

Frmd5^{CR00705-TG4.0}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0340587

Genes: Frmd5 (Dme)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with eye movement abnormalities and ataxia

Variant Name: Not Available

Myt1l^em1Mwer

(Mus musculus)

Allele/Variant

Source: MGI:7328725

Genes: Myt1l (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder 39

Variant Name: Not Available

Sce^{R65H.Scer\FRT.gen}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369071

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Luo-Schoch-Yamamoto syndrome

Variant Name: Not Available

Disease (1)

Snr1^HMS00363

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0248128

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome 3, rhabdoid cancer

Variant Name: Not Available

Disease (2)

Hsap\SRSF1^{V194S.fs2.UAS}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390971

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

dre4^HMS01332

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0257925

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Variant Name: Not Available

Disease (1)

Arid1a^tm1.1Mag

(Mus musculus)

Allele/Variant

Source: MGI:5708705

Genes: Arid1a (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Dyrk1a^em1Kzy

(Mus musculus)

Allele/Variant

Source: MGI:6149776

Genes: Dyrk1a (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder 7

Variant Name: Not Available

Hsap\TNPO2^{A546V.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369510

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Disease (1)

Hsap\TNPO2^{W370C.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369509

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Disease (1)

Eef1a2^em#Abb

(Mus musculus)

Allele/Variant

Source: MGI:7277680

Genes: Eef1a2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder 38

Variant Name: Not Available

Hsap\TNPO2^{W370R.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369508

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Disease (1)

Hsap\TNPO2^UAS.Tag:HA

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369505

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Disease (1)

Tbl1xr1^em2H

(Mus musculus)

Allele/Variant

Source: MGI:7469825

Genes: Tbl1xr1 (Mmu)

Synonyms: Not Available

Variant Type: point_mutation

Molecular Consequence: missense_variant

Diseases: Pierpont syndrome

Variant Name: Not Available

Tnpo^G736D

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0369502

Genes: Tnpo (Dme)

Synonyms: Not Available

Variant Type: point_mutation

Molecular Consequence: missense_variant

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Bicra^MB00611

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0192489

Genes: Bicra (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: coding_sequence_variant

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

dre4^KO1

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0388810

Genes: dre4 (Dme)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: splice_region_variant, 5_prime_UTR_variant

Diseases: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Variant Name: Not Available

ihb607

(Danio rerio)

Allele/Variant

Source: ZFIN:ZDB-ALT-210602-1

Genes: sox11a (Dre)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: frameshift_variant

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Bicra^HMS02539

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0281541

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Disease (1)

Tnpo^GS11030

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0323245

Genes: Tnpo (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: 5_prime_UTR_variant

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Hsap\SRSF1^{D66A.D69A.UAS}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390957

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Bicra^NIG.11873R

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0271008

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^P24L.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390964

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Hsap\SRSF1^K138A.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0390963

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Variant Name: Not Available

Disease (1)

Rac1^Y64D.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0386960

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder 48

Variant Name: Not Available

Disease (1)

Set1^HMS00581

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0257267

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with speech impairment and dysmorphic facies

Variant Name: Not Available

Disease (1)

Tnpo^KK108990

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0235965

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Variant Name: Not Available

Disease (1)

e(y)3^KK112108

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0237895

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Coffin-Siris syndrome

Variant Name: Not Available

Disease (1)

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