Human Gene DISC1 (uc010pxj.1)
Description: Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant Lv, mRNA.
RefSeq Summary (NM_001012957): This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
Position: hg19 chr1:231,762,561-232,162,298 Size: 399,738 Total Exon Count: 11 Strand: +
Coding Region
Position: hg19 chr1:231,830,500-232,162,297 Size: 331,798 Coding Exon Count: 10
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DISC1
CDC HuGE Published Literature: DISC1
Positive Disease Associations: Albuminuria
, Alzheimer Disease
, Alzheimer's disease
, Amyotrophic lateral sclerosis
, Asperger syndrome
, cognitive function
, Cystatins
, Leukemia, Lymphocytic, Chronic, B-Cell
, Natriuretic Peptide, Brain
, Neuroanatomy
, schizophrenia
, schizophrenia; bipolar disorder
, schizophrenia; schizoaffective disorder; bipolar disorder
Related Studies: Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292 ]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
Alzheimer Disease Gary W Beecham et al. American journal of human genetics 2009, Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease., American journal of human genetics.
[PubMed 19118814 ]
Alzheimer's disease Beecham ,et al. 2009, Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease, American journal of human genetics 2009 84- 1 : 35-43.
[PubMed 19118814 ]
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MalaCards Disease Associations
MalaCards Gene Search: DISC1
Diseases sorted by gene-association score: schizophrenia 9 * (569), schizoaffective disorder (42), psychotic disorder (36), schizophrenia (24), bipolar disorder (19), microcephaly-polymicrogyria-corpus callosum agenesis syndrome * (18), isolated 17-linked lissencephaly (8), asperger syndrome (8), mood disorder (6), bardet-biedl syndrome 4 (6), autism spectrum disorder (2), disease of mental health (2)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR026081 - DISC1
SCOP Domains: 46579 - Prefoldin
ModBase Predicted Comparative 3D Structure on A7E2W8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
FJ804224 - Homo sapiens disrupted in schizophrenia 1 isoform 54 (DISC1) mRNA, complete cds, alternatively spliced.FJ804223 - Homo sapiens disrupted in schizophrenia 1 isoform 53 (DISC1) mRNA, complete cds, alternatively spliced.FJ804218 - Homo sapiens disrupted in schizophrenia 1 isoform 48 (DISC1) mRNA, complete cds, alternatively spliced.FJ804219 - Homo sapiens disrupted in schizophrenia 1 isoform 49 (DISC1) mRNA, complete cds, alternatively spliced.FJ804220 - Homo sapiens disrupted in schizophrenia 1 isoform 50 (DISC1) mRNA, complete cds, alternatively spliced.FJ804221 - Homo sapiens disrupted in schizophrenia 1 isoform 51 (DISC1) mRNA, complete cds, alternatively spliced.FJ804222 - Homo sapiens disrupted in schizophrenia 1 isoform 52 (DISC1) mRNA, complete cds, alternatively spliced.FJ804217 - Homo sapiens disrupted in schizophrenia 1 isoform 47 (DISC1) mRNA, complete cds, alternatively spliced.FJ804211 - Homo sapiens disrupted in schizophrenia 1 isoform 41 (DISC1) mRNA, complete cds, alternatively spliced.FJ804212 - Homo sapiens disrupted in schizophrenia 1 isoform 42 (DISC1) mRNA, complete cds, alternatively spliced.FJ804207 - Homo sapiens disrupted in schizophrenia 1 isoform 37 (DISC1) mRNA, complete cds, alternatively spliced.FJ804208 - Homo sapiens disrupted in schizophrenia 1 isoform 38 (DISC1) mRNA, complete cds, alternatively spliced.FJ804209 - Homo sapiens disrupted in schizophrenia 1 isoform 39 (DISC1) mRNA, complete cds, alternatively spliced.FJ804210 - Homo sapiens disrupted in schizophrenia 1 isoform 40 (DISC1) mRNA, complete cds, alternatively spliced.FJ804199 - Homo sapiens disrupted in schizophrenia 1 isoform 29 (DISC1) mRNA, complete cds, alternatively spliced.FJ804200 - Homo sapiens disrupted in schizophrenia 1 isoform 30 (DISC1) mRNA, complete cds, alternatively spliced.FJ804201 - Homo sapiens disrupted in schizophrenia 1 isoform 31 (DISC1) mRNA, complete cds, alternatively spliced.FJ804202 - Homo sapiens disrupted in schizophrenia 1 isoform 32 (DISC1) mRNA, complete cds, alternatively spliced.FJ804203 - Homo sapiens disrupted in schizophrenia 1 isoform 33 (DISC1) mRNA, complete cds, alternatively spliced.FJ804204 - Homo sapiens disrupted in schizophrenia 1 isoform 34 (DISC1) mRNA, complete cds, alternatively spliced.FJ804205 - Homo sapiens disrupted in schizophrenia 1 isoform 35 (DISC1) mRNA, complete cds, alternatively spliced.FJ804206 - Homo sapiens disrupted in schizophrenia 1 isoform 36 (DISC1) mRNA, complete cds, alternatively spliced.FJ804196 - Homo sapiens disrupted in schizophrenia 1 isoform 26 (DISC1) mRNA, complete cds, alternatively spliced.FJ804197 - Homo sapiens disrupted in schizophrenia 1 isoform 27 (DISC1) mRNA, complete cds, alternatively spliced.FJ804198 - Homo sapiens disrupted in schizophrenia 1 isoform 28 (DISC1) mRNA, complete cds, alternatively spliced.AJ506177 - Homo sapiens mRNA for disrupted in schizophrenia 1 (DISC1 gene), short isoform.FJ804193 - Homo sapiens disrupted in schizophrenia 1 isoform 23 (DISC1) mRNA, complete cds, alternatively spliced.FJ804194 - Homo sapiens disrupted in schizophrenia 1 isoform 24 (DISC1) mRNA, complete cds, alternatively spliced.FJ804195 - Homo sapiens disrupted in schizophrenia 1 isoform 25 (DISC1) mRNA, complete cds, alternatively spliced.FJ804187 - Homo sapiens disrupted in schizophrenia 1 isoform 16 (DISC1) mRNA, complete cds, alternatively spliced.FJ804188 - Homo sapiens disrupted in schizophrenia 1 isoform 17 (DISC1) mRNA, complete cds, alternatively spliced.FJ804189 - Homo sapiens disrupted in schizophrenia 1 isoform 18 (DISC1) mRNA, complete cds, alternatively spliced.FJ804190 - Homo sapiens disrupted in schizophrenia 1 isoform 19 (DISC1) mRNA, complete cds, alternatively spliced.FJ804191 - Homo sapiens disrupted in schizophrenia 1 isoform 20 (DISC1) mRNA, complete cds, alternatively spliced.FJ804192 - Homo sapiens disrupted in schizophrenia 1 isoform 21 (DISC1) mRNA, complete cds, alternatively spliced.FJ804181 - Homo sapiens disrupted in schizophrenia 1 isoform 10 (DISC1) mRNA, complete cds, alternatively spliced.FJ804182 - Homo sapiens disrupted in schizophrenia 1 isoform 11 (DISC1) mRNA, complete cds, alternatively spliced.FJ804183 - Homo sapiens disrupted in schizophrenia 1 isoform 12 (DISC1) mRNA, complete cds, alternatively spliced.FJ804184 - Homo sapiens disrupted in schizophrenia 1 isoform 13 (DISC1) mRNA, complete cds, alternatively spliced.FJ804185 - Homo sapiens disrupted in schizophrenia 1 isoform 14 (DISC1) mRNA, complete cds, alternatively spliced.FJ804186 - Homo sapiens disrupted in schizophrenia 1 isoform 15 (DISC1) mRNA, complete cds, alternatively spliced.AF222980 - Homo sapiens disrupted in Schizophrenia 1 protein (DISC1) mRNA, complete cds.FJ804174 - Homo sapiens disrupted in schizophrenia 1 isoform 3 (DISC1) mRNA, complete cds, alternatively spliced.FJ804175 - Homo sapiens disrupted in schizophrenia 1 isoform 4 (DISC1) mRNA, complete cds, alternatively spliced.FJ804176 - Homo sapiens disrupted in schizophrenia 1 isoform 5 (DISC1) mRNA, complete cds, alternatively spliced.FJ804177 - Homo sapiens disrupted in schizophrenia 1 isoform 6 (DISC1) mRNA, complete cds, alternatively spliced.FJ804178 - Homo sapiens disrupted in schizophrenia 1 isoform 7 (DISC1) mRNA, complete cds, alternatively spliced.FJ804179 - Homo sapiens disrupted in schizophrenia 1 isoform 8 (DISC1) mRNA, complete cds, alternatively spliced.FJ804180 - Homo sapiens disrupted in schizophrenia 1 isoform 9 (DISC1) mRNA, complete cds, alternatively spliced.AB007926 - Homo sapiens KIAA0457 mRNA for KIAA0457 protein.BC151225 - Homo sapiens disrupted in schizophrenia 1, mRNA (cDNA clone MGC:166810 IMAGE:9007180), complete cds.BC142622 - Homo sapiens cDNA clone IMAGE:40147457, containing frame-shift errors.BC038954 - Homo sapiens cDNA clone IMAGE:5756143, containing frame-shift errors.KJ898676 - Synthetic construct Homo sapiens clone ccsbBroadEn_08070 DISC1 gene, encodes complete protein.KR712195 - Synthetic construct Homo sapiens clone CCSBHm_00036756 DISC1 (DISC1) mRNA, encodes complete protein.AB383887 - Synthetic construct DNA, clone: pF1KSDA0457, Homo sapiens DISC1 gene for disrupted in schizophrenia 1 protein, complete cds, without stop codon, in Flexi system.KJ534822 - Homo sapiens clone DISC1_iso-A_fetal-F07 disrupted in schizophrenia 1 isoform A (DISC1) mRNA, partial cds, alternatively spliced.LF212256 - JP 2014500723-A/19759: Polycomb-Associated Non-Coding RNAs.FJ804216 - Homo sapiens disrupted in schizophrenia 1 isoform 46 (DISC1) mRNA, complete cds, alternatively spliced.AJ506178 - Homo sapiens mRNA for disrupted in schizophrenia 1 (DISC1 gene), isoform E.FJ804213 - Homo sapiens disrupted in schizophrenia 1 isoform 43 (DISC1) mRNA, complete cds, alternatively spliced.FJ804214 - Homo sapiens disrupted in schizophrenia 1 isoform 44 (DISC1) mRNA, complete cds, alternatively spliced.FJ804215 - Homo sapiens disrupted in schizophrenia 1 isoform 45 (DISC1) mRNA, complete cds, alternatively spliced.JD373256 - Sequence 354280 from Patent EP1572962.JD119048 - Sequence 100072 from Patent EP1572962.JD470818 - Sequence 451842 from Patent EP1572962.AK025293 - Homo sapiens cDNA: FLJ21640 fis, clone COL08304, highly similar to AF222980 Homo sapiens disrupted in Schizophrenia 1 protein (DISC1) mRNA.AK096457 - Homo sapiens cDNA FLJ39138 fis, clone NTONG2009068.MA447833 - JP 2018138019-A/19759: Polycomb-Associated Non-Coding RNAs.JQ650116 - Homo sapiens DISC1/hypothetical non-coding RNA transcript CP60/CP69 breakpoint region.JQ650117 - Homo sapiens DISC1/non-coding RNA transcript CP1 breakpoint region.JQ650115 - Homo sapiens hypothetical non-coding RNA/DISC1 transcript breakpoint region.
Other Names for This Gene
Alternate Gene Symbols: A7E2W8, A7E2W8_HUMAN, FJ804174UCSC ID: uc010pxj.1RefSeq Accession: NM_001012957
Protein: A7E2W8
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
FJ804174.1
exon count:
11 CDS single in 3' UTR:
no
RNA size:
6933
ORF size:
1293 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
1964.50 frame shift in genome:
no
% Coverage:
33.78
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
no
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.