IDH1

Primary Author(s)*

Paul De Fazio, MSc, Monash Health

Synonyms

Isocitrate Dehydrogenase NADP(+) 1 Cytosolic, Isocitrate Dehydrogenase 1 (NADP+) Soluble, Oxalosuccinate Decarboxylase, NADP(+)-Specific ICDH, PICD, IDH, IDP, NADP-Dependent Isocitrate Dehydrogenase Peroxisomal, NADP-Dependent Isocitrate Dehydrogenase Cytosolic, Isocitrate Dehydrogenase [NADP] Cytoplasmic, Cytosolic NADP-Isocitrate Dehydrogenase, Isocitrate Dehydrogenase 1 (NADP+), Epididymis Secretory Protein Li 26, Epididymis Luminal Protein 216, HEL-S-26, HEL-216, IDCD, IDPC

Genomic Location

Cytoband: 2q34

Genomic Coordinates:

chr2:209,100,951-209,130,798 [hg19]

chr2:208,236,227-208,266,074 [hg38]

Cancer Category/Type

Glioma, astrocytoma, oligodendroglioma, acute myeloid leukaemia, myelodysplastic syndrome, lymphoma, prostate cancer, thyroid cancer

Gene Overview

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Common Alteration Types

Put your text here and/or fill in the table with an X where applicable

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

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EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

TP53 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

TP53 by COSMIC - sequence information, expression, catalogue of mutations

TP53 by CIViC - general knowledge and evidence-based variant specific information

TP53 by IARC - TP53 database with reference sequences and mutational landscape

TP53 by St. Jude ProteinPaint mutational landscape and matched expression data.

TP53 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

TP53 by Cancer Index - gene, pathway, publication information matched to cancer type

TP53 by OncoKB - mutational landscape, mutation effect, variant classification

TP53 by My Cancer Genome - brief gene overview

TP53 by UniProt - protein and molecular structure and function

TP53 by Pfam - gene and protein structure and function information

TP53 by GeneCards - general gene information and summaries

GeneReviews - information on Li Fraumeni Syndrome

References

EXAMPLE Book

1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

EXAMPLE Journal Article

1. Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.