Haploinsufficiency

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Organisms

Mus musculus (372)
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Disease

Acute leukemia (2)
Eczema (1)
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Aniridia (1)
Kabuki syndrome (1)
Peritoneal mesothelioma (1)
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Cardiovascular system disease (1)
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Technology Type

Mass Spectrometry (44)
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Instrument Platform

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Liquid Chromatography MS - negative - hilic (1)
Liquid Chromatography MS - positive - hilic (1)

Publication Date

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2008 (7)
2007 (2)
2004 (2)
2006 (1)

UNIPROT ID/AC

NCB5R_KLULA (2)
Q6CXC0_KLULA (2)
Q6CIC7_KLULA (2)
Q6CJ52_KLULA (2)
Q6CLA5_KLULA (2)
Q6CWG2_KLULA (2)
Q6CQK6_KLULA (2)
Q6CTI4_KLULA (2)
Q6CX25_KLULA (2)
DUT_KLULA (2)
Q6CY86_KLULA (2)
ENOPH_KLULA (2)
Q6CL72_KLULA (2)
Q6CJI8_KLULA (2)
Q6CTI3_KLULA (2)
Q6CWG1_KLULA (2)
Q6CKV1_KLULA (2)
Q6CL71_KLULA (2)
Q6CVU6_KLULA (2)
Q6CL09_KLULA (2)
END3_KLULA (2)
Q6CJZ3_KLULA (2)
Q6CNC4_KLULA (2)
Q6CTS6_KLULA (2)
Q6CU46_KLULA (2)
F2Z6C8_KLULA (2)
Q6CRQ6_KLULA (2)
PAN1_KLULA (2)
Q6CMG5_KLULA (2)
Q6CY88_KLULA (2)

CHEBI ID

CHEBI:15478 (1)
CHEBI:67040 (1)
CHEBI:15625 (1)
CHEBI:15641 (1)
CHEBI:16905 (1)
CHEBI:17768 (1)
CHEBI:18283 (1)
CHEBI:29042 (1)
CHEBI:17431 (1)
CHEBI:71179 (1)
CHEBI:17312 (1)
CHEBI:18066 (1)
CHEBI:27911 (1)
CHEBI:17822 (1)
CHEBI:15611 (1)
CHEBI:16680 (1)
CHEBI:16927 (1)
CHEBI:26271 (1)
CHEBI:25094 (1)
CHEBI:17858 (1)
CHEBI:16856 (1)
CHEBI:18237 (1)
CHEBI:4170 (1)
CHEBI:15346 (1)
CHEBI:22660 (1)
CHEBI:22653 (1)
CHEBI:27570 (1)
CHEBI:18186 (1)
CHEBI:26986 (1)
CHEBI:16811 (1)

Metabolite Name

N-Acetyl spermine (1)
N-Acetyl putrescine (1)
Cadaverin (1)
N-Acetyl spermidine (1)
Tiglyl-Carnitine (1)
5-methyl tetrahydrofolic acid (1)
Succinyl-coa (1)
5?-Methylthioadenosine (1)
Dimethyl arginine (1)
SAM (1)
SAH (1)
Riboflavine (1)
CoA (1)
L-2-Aminoadipate (1)
Tiglyl-CoA (1)
Agmatine (1)
Folic acid (1)
Cystathionine (1)
Histidine (1)
Leucine (1)
GSSG (1)
GSH (1)
Valine (1)
Saccharopine (1)
Citrulline (1)
S-Adenosylmethioninamine (1)
Putrescine (1)
Ornithine (1)
Serotonin (1)
Pantothenic acid (1)

First Public Date

2025 (106)
2024 (105)
2026 (73)
2020 (72)
2022 (69)
2014 (67)
2021 (62)
2023 (49)
2018 (28)
2017 (28)
2019 (20)
2015 (16)
2016 (11)
2013 (6)

Study type

Transcription profiling by array (71)
RNA-seq of coding RNA (18)
Comparative genomic hybridization by array (10)
ChIP-seq (6)
Genotyping by array (5)
RNA-seq of coding RNA from single cells (4)
DNA-seq (3)
ATAC-seq (1)
ScATAC-seq (1)
Methylation profiling by array (1)
Methylation profiling by high throughput sequencing (1)
RNA-seq of total RNA (1)

Release Date

2021 (284)
2022 (247)
2023 (231)
2020 (206)
2024 (196)
2017 (190)
2025 (185)
2019 (179)
2018 (174)
2015 (163)
2016 (146)
2014 (145)
2013 (107)
2012 (96)
2011 (84)
2010 (80)
2009 (53)
2008 (39)
2026 (33)
2007 (30)
2006 (21)
2002 (13)
2004 (12)
2005 (11)
2000 (11)
2003 (9)
2001 (9)
1999 (3)
1998 (1)
1997 (1)

Lab affiliation

Novartis Inst. for BioMedical Research (3)
Department of Biology, University Kaiserslautern, Germany. (2)
Head of the Proteomics Unit Spanish National Cancer Research Center, CNIO Melchor Fernández Almagro, 3 28029 Madrid, Spain (1)
Department of Biochemical Sciences, School of Biosciences, Faculty of Health and Medical Sciences, Edward Jenner Building, University of Surrey (1)
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France; Howard Hughes Medical Institute, New York, NY, USA (1)
School of Pharmacy, University of Wisconsin-Madison, Madison, WI, 53705, USA (1)
Skin Research Group, Division of Molecular and Clinical Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK (1)
Department of Biochemistry, SUSTech Homeostatic Medicine Institute, School of Medicine, Southern University of Science and Technology, (1)
College of Biology, hunan University, China (1)
Department of Pathology, University of California, San Francisco. San Francisco, CA, USA. Institute for Neurodegenerative Diseases, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. (1)
NeuroEpigenetics laboratory, Department of Cellular, Computational and Integrative Biology, University of Trento, Trento, Italy (1)
Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital, Charles University in Prague, Czech Republic (1)
State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, China (1)
Department of Genetics, Harvard Medical School, Boston, MA 02115 (1)
Max Planck Institute for Multidisciplinary Sciences, Bioanalytical Mass Spectrometry Group, Göttingen, Germany University Medical Center Göttingen, Department of Clinical Chemistry, Bioanalytics Group, Göttingen, Germany (1)
Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Cancer Research Centre, Wilmslow Road, Manchester M20 4GJ, United Kingdom (1)
UW-Madison (1)
Department of Biochemistry and Biophysics, RNA Discovery Center, and Lineberger Comprehensive Cancer Center, The University of North Carolina at Chapel Hill (1)
Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna BioCenter (VBC), 1030 Vienna, Austria. (1)
2Department of Biological Sciences, Korea Advanced Institute for Science and Technology (KAIST) (1)
Department of Biological Sciences, Korea Advanced Institute for Science and Technology (KAIST) (1)
Department of Pharmacy and Biotechnology - University of Bologna (1)
Department of Cell Biology Harvard Medical School Boston, MA USA (1)
Proteomics Facility Max Planck Insitutte for Immunobiology and Epigenetics (1)
Biomedical Center Munich Molecular Biology Großhaderner Strasse 9 82152 Planegg-Martinsried (1)
Molecular Genetics, RPTU Kaiserslautern (1)
Division head B230 Proteomics of Stem Cells and Cancer (1)
The Wistar Institute Philadelphia, PA USA (1)
Shandong Academy of Agricultural Sciences (1)
Istituto Superiore di Sanità (1)

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KLF1 haploinsufficiency

Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts

PRJEB31712 | ENA

Dnmt3a haploinsufficiency transforms Flt3-ITD myeloproliferative disease into a rapid, spontaneous, and fully-penetrant acute myeloid leukemia (Bulk RNA-Seq)

Cytogenetically normal acute myeloid leukemia (CN-AML) represents nearly 50% of human acute myeloid leukemia (AML) cases with a 5-year overall survival of approximately 30%. In CN-AML with poorer prognosis, mutations in the de novo DNA methyltransferase (DNMT3A) and the FMS-like tyrosine kinase 3 (F...

ORGANISM(S): Mus musculus

2016-03-27 | E-GEOD-77846 | biostudies-arrayexpress

Dnmt3a haploinsufficiency transforms Flt3-ITD myeloproliferative disease into a rapid, spontaneous, and fully-penetrant acute myeloid leukemia (Single Cell RNA-Seq)

ORGANISM(S): Mus musculus

2016-03-27 | E-GEOD-77847 | biostudies-arrayexpress

TAB2 haploinsufficiency

PRJNA747894 | ENA

BCL11A haploinsufficiency

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency

PRJEB31728 | ENA

β cell specific Crif1 haploinsufficiency effect.

PRJNA637028 | ENA

Dissecting the stem cell compartment in Csnk1a1 haploinsufficiency

PRJNA694424 | ENA

Potential involvement of KANK1 haploinsufficiency in centrosome aberrations

PRJNA977622 | ENA

Genome-Wide Analysis of Haploinsufficiency in Human Embryonic Stem Cells

PRJEB51110 | ENA

KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

Kabuki Syndrome (KS) is a multisystemic rare disorder, characterized by growth delay, distinctive facial features, intellectual disability, and rarely autism spectrum disorder. This condition is mostly caused by de novo mutations of KMT2D, encoding a catalytic subunit of the COMPASS complex involved...

ORGANISM(S): Homo sapiens

2022-12-25 | E-MTAB-10244 | biostudies-arrayexpress

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4397 Results

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