Details for: BCKDHB
Gene ID: 594
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: BCKDHB
Ensembl ID: ENSG00000083123
Description: branched chain keto acid dehydrogenase E1 subunit beta
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 31.01rCSI 52.04%PRS 35.27
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CSI 24.38rCSI 33.36%PRS 47.16
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CSI 24.36rCSI 43.6%PRS 50.88
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CSI 20.24rCSI 45.38%PRS 36
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CSI 13.63rCSI 9.47%PRS 62.35
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CSI 13.59rCSI 17.44%PRS 46.33
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CSI 11.81rCSI 42.49%PRS 33.96
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CSI 11rCSI 27.23%PRS 50.2
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CSI 10.61rCSI 25.78%PRS 34.05
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CSI 10.49rCSI 16.73%PRS 45.57
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CSI 10.06rCSI 16.19%PRS 37.4
-
CSI 9.71rCSI 25.22%PRS 56.65
-
CSI 9.61rCSI 13.79%PRS 42.64
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CSI 8.95rCSI 23.75%PRS 65.27
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CSI 8.78rCSI 19.24%PRS 61.35
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CSI 8.66rCSI 6.08%PRS 72.47
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CSI 8.52rCSI 14.73%PRS 42.56
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CSI 8.44rCSI 28.89%PRS 42.42
-
CSI 8.36rCSI 7.78%PRS 52.01
-
CSI 7.6rCSI 44.77%PRS 36.71
-
CSI 7.33rCSI 6.51%PRS 50.63
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CSI 7.21rCSI 12.73%PRS 34.29
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CSI 6.92rCSI 21.64%PRS 36.68
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CSI 6.76rCSI 12.66%PRS 41.3
-
CSI 6.65rCSI 8.88%PRS 60.95
-
CSI 6.51rCSI 6.98%PRS 50.59
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CSI 6.49rCSI 6.26%PRS 42.82
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CSI 6.47rCSI 11.63%PRS 45.46
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CSI 6.46rCSI 8.29%PRS 57.12
-
CSI 6.27rCSI 20.41%PRS 53.64
-
CSI 6.18rCSI 5.18%PRS 57.08
-
CSI 5.74rCSI 4.25%PRS 45.15
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CSI 5.57rCSI 5.82%PRS 51.19
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CSI 5.5rCSI 6.36%PRS 46.13
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CSI 5.46rCSI 30.85%PRS 38.04
-
CSI 5.43rCSI 8.3%PRS 52.9
-
CSI 5.43rCSI 39.92%PRS 39.64
-
CSI 5.4rCSI 10.96%PRS 33.24
-
CSI 5.39rCSI 9.46%PRS 44.42
-
CSI 5.22rCSI 11.54%PRS 39.51
-
CSI 5.21rCSI 7.24%PRS 51.44
-
CSI 5.16rCSI 13.27%PRS 53.27
-
CSI 5.15rCSI 19.29%PRS 44.67
-
CSI 5.12rCSI 19.35%PRS 36.1
-
CSI 5.09rCSI 10.22%PRS 41.61
-
CSI 4.92rCSI 11.25%PRS 51.69
-
CSI 4.62rCSI 10.55%PRS 44.86
-
CSI 4.44rCSI 5.53%PRS 33.55
-
CSI 4.34rCSI 11.22%PRS 47.75
-
CSI 4.16rCSI 6.69%PRS 42.4
-
CSI 4.07rCSI 9.7%PRS 53.82
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CSI 3.98rCSI 3.76%PRS 52.47
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CSI 3.93rCSI 6.92%PRS 49.84
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CSI 3.93rCSI 9.59%PRS 46.96
-
CSI 3.91rCSI 2.31%PRS 68.96
-
CSI 3.9rCSI 4.66%PRS 35.15
-
CSI 3.73rCSI 8.61%PRS 42.54
-
CSI 3.72rCSI 14.48%PRS 59.61
-
CSI 3.69rCSI 10.17%PRS 48.36
-
CSI 3.48rCSI 17.82%PRS 56.37
-
CSI 3.47rCSI 4.31%PRS 54.43
-
CSI 3.41rCSI 4.4%PRS 36.32
-
CSI 3.39rCSI 10.06%PRS 62.83
-
CSI 3.29rCSI 10.53%PRS 49.17
-
CSI 3.22rCSI 7.55%PRS 59.41
-
CSI 3.15rCSI 8.48%PRS 60.44
-
CSI 3.14rCSI 2.44%PRS 53.09
-
CSI 3.11rCSI 2.52%PRS 62.3
-
CSI 3.1rCSI 2.45%PRS 39.43
-
CSI 3.08rCSI 7.82%PRS 42.08
-
CSI 3.07rCSI 3.02%PRS 54.83
-
CSI 3.03rCSI 3.16%PRS 52.68
-
CSI 2.92rCSI 14.01%PRS 51.51
-
CSI 2.87rCSI 16.52%PRS 52.77
-
CSI 2.84rCSI 8.24%PRS 42.73
-
CSI 2.84rCSI 11.11%PRS 28.9
-
CSI 2.78rCSI 66.65%PRS 34.73
-
CSI 2.76rCSI 3.03%PRS 56.01
-
CSI 2.74rCSI 66.23%PRS 35.7
-
CSI 2.69rCSI 7.11%PRS 60.6
-
CSI 2.69rCSI 3.98%PRS 57.69
-
CSI 2.66rCSI 7.09%PRS 43.21
-
CSI 2.66rCSI 11.71%PRS 44.3
-
CSI 2.65rCSI 16.55%PRS 44.33
-
CSI 2.6rCSI 2.73%PRS 49.12
-
CSI 2.6rCSI 6.77%PRS 51.48
-
CSI 2.58rCSI 5.36%PRS 49.63
-
CSI 2.55rCSI 6.1%PRS 61.77
-
CSI 2.53rCSI 4.14%PRS 42.12
-
CSI 2.52rCSI 5%PRS 50.6
-
CSI 2.49rCSI 2.93%PRS 55.34
-
CSI 2.48rCSI 10.55%PRS 47.26
-
CSI 2.43rCSI 6.84%PRS 50.48
-
CSI 2.37rCSI 9.54%PRS 50.64
-
CSI 2.34rCSI 1.82%PRS 70.32
-
CSI 2.33rCSI 11.14%PRS 52.13
-
CSI 2.29rCSI 3.66%PRS 56.19
-
CSI 2.28rCSI 6.52%PRS 67.55
-
CSI 2.17rCSI 1.86%PRS 59.97
-
CSI 2.14rCSI 3.78%PRS 60.59
-
CSI 0.4rCSI 0.5%PRS 59.5%
-
CSI 0.4rCSI 2.1%PRS 62.7%
-
CSI 0.4rCSI 4.2%PRS 52.0%
-
CSI 0.5rCSI 1.8%PRS 67.1%
-
CSI 0.5rCSI 4.6%PRS 39.4%
-
CSI 0.6rCSI 5.0%PRS 46.0%
-
CSI 0.6rCSI 4.3%PRS 46.9%
-
CSI 0.7rCSI 2.9%PRS 49.9%
-
CSI 0.7rCSI 7.6%PRS 44.3%
-
CSI 0.7rCSI 5.4%PRS 46.8%
-
CSI 0.7rCSI 5.6%PRS 49.3%
-
CSI 0.8rCSI 4.0%PRS 64.7%
-
CSI 0.8rCSI 1.9%PRS 63.0%
-
CSI 0.8rCSI 1.6%PRS 56.1%
-
CSI 0.8rCSI 4.4%PRS 59.0%
-
CSI 0.9rCSI 3.4%PRS 53.0%
-
CSI 0.9rCSI 3.4%PRS 44.4%
-
CSI 0.9rCSI 2.2%PRS 61.1%
-
CSI 1.0rCSI 1.5%PRS 44.8%
-
CSI 1.0rCSI 8.2%PRS 51.4%
-
CSI 1.0rCSI 1.9%PRS 54.7%
-
CSI 1.0rCSI 4.5%PRS 37.4%
-
CSI 1.0rCSI 9.0%PRS 39.9%
-
CSI 1.0rCSI 1.6%PRS 53.6%
-
CSI 1.1rCSI 3.5%PRS 40.3%
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CSI 1.1rCSI 2.3%PRS 41.5%
-
CSI 1.1rCSI 5.2%PRS 48.4%
-
CSI 1.1rCSI 3.6%PRS 51.2%
-
CSI 1.1rCSI 4.4%PRS 68.8%
-
CSI 1.1rCSI 5.9%PRS 48.3%
-
CSI 1.2rCSI 2.1%PRS 68.4%
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CSI 1.2rCSI 8.8%PRS 70.6%
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CSI 1.2rCSI 1.8%PRS 55.8%
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CSI 1.2rCSI 1.5%PRS 50.2%
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CSI 1.2rCSI 1.8%PRS 69.3%
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CSI 1.3rCSI 29.7%PRS 74.1%
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CSI 1.3rCSI 3.4%PRS 44.2%
-
CSI 1.3rCSI 1.4%PRS 58.1%
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CSI 1.4rCSI 4.5%PRS 39.0%
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CSI 1.4rCSI 6.0%PRS 51.3%
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CSI 1.4rCSI 4.1%PRS 50.6%
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CSI 1.4rCSI 1.0%PRS 54.7%
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CSI 1.4rCSI 7.1%PRS 50.9%
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CSI 1.5rCSI 3.5%PRS 40.5%
-
CSI 1.5rCSI 30.3%PRS 45.2%
-
CSI 1.5rCSI 2.3%PRS 60.9%
-
CSI 1.5rCSI 2.4%PRS 63.4%
-
CSI 1.6rCSI 2.9%PRS 45.1%
-
CSI 1.6rCSI 5.0%PRS 62.8%
-
CSI 1.7rCSI 4.2%PRS 60.8%
-
CSI 1.7rCSI 1.4%PRS 52.7%
-
CSI 1.7rCSI 24.7%PRS 43.9%
-
CSI 1.8rCSI 1.6%PRS 67.0%
-
CSI 1.8rCSI 35.8%PRS 43.9%
-
CSI 1.8rCSI 3.9%PRS 50.0%
-
CSI 1.9rCSI 1.2%PRS 55.8%
-
CSI 1.9rCSI 3.9%PRS 44.5%
-
CSI 1.9rCSI 5.0%PRS 58.6%
-
CSI 2.0rCSI 6.1%PRS 39.1%
-
CSI 2.0rCSI 2.1%PRS 55.5%
-
CSI 2.0rCSI 5.7%PRS 50.9%
-
CSI 2.0rCSI 16.5%PRS 45.9%
-
CSI 2.1rCSI 3.0%PRS 46.8%
-
CSI 2.1rCSI 1.7%PRS 53.4%
-
CSI 2.1rCSI 3.0%PRS 48.8%
-
CSI 2.1rCSI 3.8%PRS 60.6%
-
CSI 2.2rCSI 1.9%PRS 60.0%
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CSI 2.3rCSI 6.5%PRS 67.6%
-
CSI 2.3rCSI 3.7%PRS 56.2%
-
CSI 2.3rCSI 11.1%PRS 52.1%
-
CSI 2.3rCSI 1.8%PRS 70.3%
-
CSI 2.4rCSI 9.5%PRS 50.6%
-
CSI 2.4rCSI 6.8%PRS 50.5%
-
CSI 2.5rCSI 10.6%PRS 47.3%
-
CSI 2.5rCSI 2.9%PRS 55.3%
-
CSI 2.5rCSI 5.0%PRS 50.6%
-
CSI 2.5rCSI 4.1%PRS 42.1%
-
CSI 2.6rCSI 6.1%PRS 61.8%
-
CSI 2.6rCSI 5.4%PRS 49.6%
-
CSI 2.6rCSI 6.8%PRS 51.5%
-
CSI 2.6rCSI 2.7%PRS 49.1%
-
CSI 2.7rCSI 16.6%PRS 44.3%
-
CSI 2.7rCSI 11.7%PRS 44.3%
-
CSI 2.7rCSI 7.1%PRS 43.2%
-
CSI 2.7rCSI 4.0%PRS 57.7%
-
CSI 2.7rCSI 7.1%PRS 60.6%
-
CSI 2.7rCSI 66.2%PRS 35.7%
-
CSI 2.8rCSI 3.0%PRS 56.0%
-
CSI 2.8rCSI 66.7%PRS 34.7%
-
CSI 2.8rCSI 11.1%PRS 28.9%
-
CSI 2.8rCSI 8.2%PRS 42.7%
-
CSI 2.9rCSI 16.5%PRS 52.8%
-
CSI 2.9rCSI 14.0%PRS 51.5%
-
CSI 3.0rCSI 3.2%PRS 52.7%
-
CSI 3.1rCSI 3.0%PRS 54.8%
-
CSI 3.1rCSI 7.8%PRS 42.1%
-
CSI 3.1rCSI 2.5%PRS 39.4%
-
CSI 3.1rCSI 2.5%PRS 62.3%
-
CSI 3.1rCSI 2.4%PRS 53.1%
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CSI 3.2rCSI 8.5%PRS 60.4%
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
-
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 4259112584
Symbol: ODBB_HUMAN
Name: Branched-chain alpha-keto acid dehydrogenase E1 component beta chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2365818
Title: Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
PubMed ID: 2365818
DOI: 10.1172/jci114690
PubMed ID: 8651316
Title: Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
PubMed ID: 8651316
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2335211
Title: Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex.
PubMed ID: 2335211
PubMed ID: 7918575
Title: Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence.
PubMed ID: 7918575
PubMed ID: 9582350
Title: Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
PubMed ID: 9582350
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 10745006
Title: Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
PubMed ID: 10745006
PubMed ID: 8161368
Title: Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
PubMed ID: 8161368
PubMed ID: 11509994
Title: Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
PubMed ID: 11509994
DOI: 10.1086/323677
PubMed ID: 22326532
Title: Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
PubMed ID: 22326532
Sequence Information:
- Length: 392
- Mass: 43122
- Checksum: D78097834D063BB7
- Sequence:
MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY
Genular Protein ID: 3357021263
Symbol: B4E2N3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 322
- Mass: 35493
- Checksum: CFB7DF596ED02A75
- Sequence:
MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVLEECF LNLEAPISRV CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY
Genular Protein ID: 66381409
Symbol: B7ZB80_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 322
- Mass: 35508
- Checksum: F4CEEF596ED031FF
- Sequence:
MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY