schizophrenia gene search

Made

CYP17A1
C10ORF32
CNNM2
INA
ARL3

Locus Rank

Gene

Gene Name

CYP17A1

Duplicated

False

Maternal

True

Gene Not Within Locus (Nearby

False

Gene Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alp

Mouse Phenotype

Homozygous null embryos display early embryonic lethality.

Additional Image

Allen Brain

Allen Regions

Zfin In Situ

Zfin Brain Areas

Published Zebrafish Pehnotype

Not In Allen Brain

True

ZFIN Link

http://zfin.org/ZDB-GENE-040213-2

Allen Link

http://mouse.brain-map.org/gene/show/12855

More Additional Images

Papers

http://www.ncbi.nlm.nih.gov/pubmed/22800812
http://www.ncbi.nlm.nih.gov/pubmed/21692878
http://www.sciencedirect.com/science/article/pii/S0016648011003649

Locus Rank

Genes in Region

ARL3, AS3MT, C10orf32, CNNM2, CYP17A1, INA, NT5C2, PCGF6, PDCD11, SFXN2, TAF5, TRIM8, USMG5, WBP1L

Associated Snps

rs11191419 (shown), chr10_104957618_I, rs7907645, rs55833108

GWAS Region (hg19)

chr10:104423800-105165583

Genes Skipping

AS3MT, NT5C2, PCGF6, PDCD11, SFXN2, TAF5, TRIM8, USMG5, WBP1L

Ricopili Plot Surrounding Area

Distance On Each Side Of Locus In Above Plot

0.2 MB

Ricopili Plot

Gwas And Surrounding Region Pic

Gwas Region Pic

Genes In Locus Rank

NT5C2
CYP17A1
C10ORF32
CNNM2
INA
ARL3

Sequence 1

Ensembl Gene Name

cyp17a1

Harvard Allele

a259

Mutation Area - WT DNA Sequence

CTGGAGGACACTCAGTTGAATATAGCTGACAATGGCTGAAGCACTCATCCTGCCCTGGCTGCTCTGTTTAAGCCTGTTCTCCGCAGTGACTCTGGCAGCTCTGTATCTCAAACAGAAGATGAATGGATTTGTGCCAGCAGGAAATAGATCTCCTCCAAGTCTCCCTTCACTGCCCATCATCGGGAGTCTGATGAGCCTGGTGAGCGACAGTCCTCCGCACATCTTCTTTCAGGACCTGCAGAAGAAATACGGAGATCTGTATTCCCTCATGATGGGCTCCCACAAACTGCTCATTGTGAACAACCACCATCATGCGAAGGAGATCCTGATCAAAAAAGGAAAAATATTTGCAGGGAGGCCACGGACTgtaagtacatacaatcacattcagtttaattagccatttttagctgtttaaattttgttaatttaaatatggcccatctgcatatggttaaactaaatttac

Mutation Area - Mutant DNA Sequence

CTGGAGGACACTCAGTTGAATATAGCTGACAATGGCTGAAGCACTCATCCTGCCCTGGCTGCTCTGTTTAAGCCTGTTCTCAGCAGTGACTCTGGCAGCTCTGTATCTCAAACAGAAGATGAATGGATTTGTGCCAGCAGGAAACAGATCTCCTCGAAGGAGATCCTGATCAAAAAAGGAAAAATATTTGCAGGGAGGCCACGGACTGTAAGTACATACAATCACATTCAGTTTAATTAGCCATTTTTAGCTGTTTAAATTTTGTTAATTTAAATATGGCCCATCTGCATATGGTTAAACTAAATTTAC

Guide RNA Target Sites

GGCAGTGAAGGGAGACTTGGAGG
GCGGAGGACTGTCGCTCACCAGG
GTTTGTGGGAGCCCATCATGAGG
GGATCTCCTTCGCATGATGGTGG

Genotyping Primers

f, CTGGAGGACACTCAGTTGAATATAGC
r,gtaaatttagtttaaccatatgcagatgggcc

Alignment of WT and Mutant Sequences w/ gRNA Targets (cyan) and Genotyping Primers (pink) Shown on WT Sequence

Allele

160bpD

WT Genotyping Size

469

WT Protein Sequence

MAEALILPWLLCLSLFSAVTLAALYLKQKMNGFVPAGNRSPPSLPSLPIIGSLMSLVSDS
PPHIFFQDLQKKYGDLYSLMMGSHKLLIVNNHHHAKEILIKKGKIFAGRPRTVTTDLLTR
DGKDIAFADYSSTWKFHRKMVHGALCMFGEGSVSIEKIICREASSMCEVLTESQNSAVDL
GPELTRAVTNVVCALCFNSSYKRGDAEFESMLQYSQGIVDTVAKDSLVDIFPWLQIFPNK
DLRILRQCISIRDKLLQKKYEEHKVTYSDNVQRDLLDALLRAKRSSENNNSSTRDVGLTE
DHVLMTVGDIFGAGVETTTTVLKWSIAYLVHNPQVQRKIQEELDSKIGKERHPQLSDRGN
LPYLEATIREVLRIRPVSPLLIPHVALQDSSVGEYTVQKGTRVVINLWSLHHDEKEWKNP
ELFDPGRFLNEEGDGLCCPSGSYLPFGAGVRVCLGEALAKMELFLFLAWILQRFTLEMPT
GQPLPDLQGKFGVVLQPKKFKVVAKVRADWEKSPLMQHC-

Mutant Protein Sequence

MAEALILPWLLCLSLFSAVTLAALYLKQKMNGFVPAGNRSPRRRS-

Mutant Genotyping Size

309

Ribosome Profiling Development

Transcript Plot

Behavior Data

Behavior Data Summary

None

Behavior Data Description 1

Dark flash block 1 start Merged section Pvalue = 0.0231 9 wt vs 9 hom ribgraph_mean_ribbon_fullboutdata_dpix_a0darkflash103.png

Behavior Data Graph 1

Behavior Data Description 2

Day all prepulse tap Merged section Pvalue = not significant 9 wt vs 9 hom ribgraph_mean_ribbon_fullboutdata_dpix_dayprepulseinhibition100d.png

Behavior Data Graph 2

Behavior Data Description 3

Features of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 9 wt vs 9 hom ribgraph_mean_ribbonbout_aveboutdisp_10min_combo.png

Behavior Data Graph 3

Behavior Data Description 4

Frequency of movement entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 9 wt vs 9 hom ribgraph_mean_ribbonbout_dpixnumberofbouts_10min_combo.png

Behavior Data Graph 4

Behavior Data Description 5

Location in well entire protocol Graph Pvalue = not significant Merged section Pvalue = not significant 9 wt vs 9 hom ribgraph_mean_ribbonbout_averhofrac_10min_combo.png

Behavior Data Graph 5

Behavior Data Description 6

None

Behavior Data Graph 6

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Behavior Data Description 7

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Behavior Data Graph 7

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Behavior Data Description 8

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Behavior Data Graph 8

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Behavior Data Description 9

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Behavior Data Graph 9

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Behavior Data Description 10

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Behavior Data Graph 10

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Behavior Data Description 11

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Behavior Data Graph 11

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Behavior Data Description 12

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Behavior Data Graph 12

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Behavior Data Description 13

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Behavior Data Graph 13

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Behavior Data Description 14

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Behavior Data Graph 14

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