Details for: SOX9
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
-
CSI 17.7rCSI 27.05%PRS 94.34
-
CSI 16.24rCSI 23.4%PRS 95.25
-
CSI 13.77rCSI 10.67%PRS 95.09
-
CSI 11.09rCSI 35.58%PRS 93.01
-
CSI 10.35rCSI 24.84%PRS 93.04
-
CSI 10.23rCSI 27.57%PRS 94.73
-
CSI 9.97rCSI 8.76%PRS 86.08
-
CSI 9.13rCSI 17.76%PRS 94.38
-
CSI 7.94rCSI 18.5%PRS 94.29
-
CSI 7.04rCSI 10.75%PRS 92.43
-
CSI 7.01rCSI 5.54%PRS 87.87
-
CSI 6.89rCSI 5.6%PRS 92.83
-
CSI 6.58rCSI 6.82%PRS 94.53
-
CSI 6.35rCSI 15.1%PRS 94.32
-
CSI 5.42rCSI 5.22%PRS 90.29
-
CSI 5.39rCSI 8.56%PRS 96.46
-
CSI 5.33rCSI 8.5%PRS 87.08
-
CSI 5.25rCSI 18.43%PRS 96.16
-
CSI 5.04rCSI 4.76%PRS 91.3
-
CSI 4.94rCSI 7.59%PRS 82.65
-
CSI 4.65rCSI 5.97%PRS 90.1
-
CSI 4.47rCSI 23.45%PRS 94.45
-
CSI 4.31rCSI 10.68%PRS 94.54
-
CSI 4.27rCSI 32.09%PRS 96.36
-
CSI 4.24rCSI 8.39%PRS 94.96
-
CSI 4.19rCSI 5.83%PRS 91.88
-
CSI 3.88rCSI 14.76%PRS 87.93
-
CSI 3.7rCSI 3.29%PRS 91.33
-
CSI 3.65rCSI 6.9%PRS 97.06
-
CSI 3.59rCSI 15.24%PRS 87.9
-
CSI 3.44rCSI 5.08%PRS 96.71
-
CSI 3.39rCSI 3.55%PRS 91.36
-
CSI 3.27rCSI 3.27%PRS 88.49
-
CSI 3.14rCSI 8.08%PRS 90.08
-
CSI 3.1rCSI 6.28%PRS 78.43
-
CSI 3.08rCSI 3.55%PRS 86.86
-
CSI 3.08rCSI 3.56%PRS 88.94
-
CSI 3.01rCSI 2.5%PRS 94.23
-
CSI 2.98rCSI 6.81%PRS 88.1
-
CSI 2.95rCSI 8.27%PRS 95.11
-
CSI 2.92rCSI 7.01%PRS 93.91
-
CSI 2.84rCSI 4.52%PRS 89.74
-
CSI 2.81rCSI 8.31%PRS 92.89
-
CSI 2.78rCSI 4.08%PRS 96.82
-
CSI 2.71rCSI 3.6%PRS 95.38
-
CSI 2.67rCSI 5.31%PRS 90.59
-
CSI 2.67rCSI 2.86%PRS 94.24
-
CSI 2.59rCSI 3.54%PRS 91.48
-
CSI 2.55rCSI 3.74%PRS 95.92
-
CSI 2.54rCSI 6.42%PRS 94.91
-
CSI 2.48rCSI 2.39%PRS 92.19
-
CSI 2.44rCSI 3.26%PRS 90.96
-
CSI 2.4rCSI 2.98%PRS 92.77
-
CSI 2.4rCSI 3.92%PRS 87.86
-
CSI 2.38rCSI 6.14%PRS 91.61
-
CSI 2.37rCSI 3.39%PRS 91.6
-
CSI 2.34rCSI 4.25%PRS 96.51
-
CSI 2.33rCSI 2.74%PRS 93.36
-
CSI 2.28rCSI 2.77%PRS 95.68
-
CSI 2.27rCSI 4.83%PRS 94.64
-
CSI 2.17rCSI 10.14%PRS 95.53
-
CSI 2.01rCSI 2.14%PRS 94.83
-
CSI 1.95rCSI 2.66%PRS 87.35
-
CSI 1.91rCSI 8.4%PRS 84.05
-
CSI 1.86rCSI 4.23%PRS 87.26
-
CSI 1.85rCSI 1.93%PRS 91.3
-
CSI 1.7rCSI 3.01%PRS 82.56
-
CSI 1.66rCSI 3.72%PRS 83.5
-
CSI 1.63rCSI 3.87%PRS 90.31
-
CSI 1.61rCSI 7.09%PRS 95.41
-
CSI 1.58rCSI 3.46%PRS 94.74
-
CSI 1.55rCSI 4.08%PRS 97.7
-
CSI 1.54rCSI 2.48%PRS 90.61
-
CSI 1.49rCSI 4.31%PRS 94.87
-
CSI 1.49rCSI 4.25%PRS 94.16
-
CSI 1.36rCSI 2.08%PRS 95.71
-
CSI 1.32rCSI 7.18%PRS 94.86
-
CSI 1.16rCSI 26.94%PRS 96.83
-
CSI 1.13rCSI 2.88%PRS 89.38
-
CSI 0.83rCSI 4.44%PRS 95.99
-
CSI 0.72rCSI 7.1%PRS 95.95
-
CSI 0.59rCSI 2.54%PRS 95.01
-
CSI 0.36rCSI 3.92%PRS 95.38
-
CSI 0.35rCSI 5.41%PRS 94.65
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: 3595952783
Symbol: SOX9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7990924
Title: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
PubMed ID: 7990924
DOI: 10.1038/372525a0
PubMed ID: 8001137
Title: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
PubMed ID: 8001137
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: 8640233
Title: Sex reversal by loss of the C-terminal transactivation domain of human SOX9.
PubMed ID: 8640233
DOI: 10.1038/ng0696-230
PubMed ID: 12732631
Title: Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9.
PubMed ID: 12732631
PubMed ID: 21208124
Title: A SOX9 duplication and familial 46,XX developmental testicular disorder.
PubMed ID: 21208124
DOI: 10.1056/nejmc1010311
PubMed ID: 25604083
Title: Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
PubMed ID: 25604083
PubMed ID: 28263186
Title: Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
PubMed ID: 28263186
DOI: 10.1172/jci90193
PubMed ID: 31382142
Title: SOX9 in cartilage development and disease.
PubMed ID: 31382142
PubMed ID: 31194875
Title: The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.
PubMed ID: 31194875
DOI: 10.1093/nar/gkz523
PubMed ID: 34342803
Title: The 9aaTAD Activation Domains in the Yamanaka Transcription Factors Oct4, Sox2, Myc, and Klf4.
PubMed ID: 34342803
PubMed ID: 9143916
Title: Mutations in SRY and SOX9: testis-determining genes.
PubMed ID: 9143916
DOI: 10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0
PubMed ID: 7485151
Title: Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
PubMed ID: 7485151
PubMed ID: 9002675
Title: Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
PubMed ID: 9002675
DOI: 10.1093/hmg/6.1.91
PubMed ID: 9452059
Title: Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
PubMed ID: 9452059
PubMed ID: 10446171
Title: Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
PubMed ID: 10446171
PubMed ID: 10951468
Title: Acampomelic campomelic dysplasia with SOX9 mutation.
PubMed ID: 10951468
DOI: 10.1002/1096-8628(20000828)93:5<421::aid-ajmg14>3.3.co;2-x
PubMed ID: 11754051
PubMed ID: 11323423
Title: Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
PubMed ID: 11323423
PubMed ID: 12783851
Title: Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
PubMed ID: 12783851
DOI: 10.1093/hmg/ddg158
PubMed ID: 19033726
Title: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
PubMed ID: 19033726
DOI: 10.1159/000176299
PubMed ID: 19921652
Title: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
PubMed ID: 19921652
DOI: 10.1002/ajmg.a.33107
PubMed ID: 20513132
Title: Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
PubMed ID: 20513132
DOI: 10.1002/humu.21238
PubMed ID: 24038782
Title: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
PubMed ID: 24038782
DOI: 10.1002/ajmg.a.36134
Sequence Information:
- Length: 509
- Mass: 56137
- Checksum: 9289CFBB8D6631A2
- Sequence:
MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP