Property Summary

NCBI Gene PubMed Count 120
Grant Count 122
R01 Count 54
Funding $17,389,249.42
PubMed Score 428.27
PubTator Score 257.11

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
posterior fossa group A ependymoma -2.100 0.000
psoriasis -1.200 0.000
cutaneous lupus erythematosus -1.300 0.043
glioblastoma multiforme -1.100 0.000
oligodendroglioma -1.100 0.001
osteosarcoma 1.354 0.003
group 3 medulloblastoma -3.100 0.001
atypical teratoid/rhabdoid tumor -2.400 0.000
medulloblastoma, large-cell -1.600 0.001
pilocytic astrocytoma 2.500 0.000
subependymal giant cell astrocytoma -2.825 0.013
Breast cancer -3.500 0.000
breast carcinoma -1.700 0.000
ovarian cancer 1.500 0.000
Down syndrome 1.400 0.001

Synonym

Accession P56693 B4DV62 Q6FHW7
Symbols DOM
WS4
PCWH
WS2E
WS4C

Gene

Gene RIF (104)

PMID Text
27454999 Despite the fact that the E248fs has a dominant-negative effect on SOX10, its reduced stability may down-regulate the transcription of MITF and decrease the synthesis of melanin
26945037 This study demonstated that Shows no differences in expression level in ependymomas from Infants versus older children or amongiMolecular Subgroups.
26619208 The use of SOX10 may increase the diagnostic accuracy of salivary gland oncocytic lesions on fine needle aspiration.
26467042 Our study shows an inversed preferential nuclear expression of SLUG, SOX10, and SOX9 in triple negative and non-triple negative cases.
26296878 Our result confirm the thesis that heterozygous deletions at SOX10 is an important pathogenicity for Waardenburg syndrome type II.
26287936 SOX10-positivity rules out the diagnosis of ependymoma among other glial tumors with high confidence
26228106 our data imply that the same SOX10 mutations can underlie both typical Waardenburg syndrome and Kallmann Syndrome with deafness without skin/hair hypopigmentation, Hirschsprung disease, or neurological defects
26060192 Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
25959061 Study shows that by uncoupling the effects of gain-of-function and haploinsufficiency in vivo, the effect of PCWH-causing SOX10 mutation is solely pathogenic in each SOX10-expressing cellular lineage in a dosage-dependent manner.
25865119 Melanoma reprogramming involves thousands of genomic regulatory regions underlying the proliferative and invasive states, identifying SOX10/MITF and AP-1/TEAD as regulators, respectively.
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AA Sequence

MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPV      1 - 70
CIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGK     71 - 140
LWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSA    141 - 210
HLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGE    211 - 280
ISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGV    281 - 350
DAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG    351 - 420
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP                            421 - 466
//

Text Mined References (122)

PMID Year Title
27454999 2016 [Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].
26945037 2016 SOX10 Distinguishes Pilocytic and Pilomyxoid Astrocytomas From Ependymomas but Shows No Differences in Expression Level in Ependymomas From Infants Versus Older Children or Among Molecular Subgroups.
26619208 2015 Expression of SOX10 in Salivary Gland Oncocytic Neoplasms: A Review and a Comparative Analysis with Other Immunohistochemical Markers.
26467042 2015 Differential expression of epithelial–mesenchymal transition and stem cell markers in intrinsic subtypes of breast cancer.
26296878 2015 Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.
26287936 2016 SOX10 and Olig2 as negative markers for the diagnosis of ependymomas: An immunohistochemical study of 98 glial tumors.
26228106 2015 Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
26060192 2015 Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
25959061 2015 Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.
25865119 2015 Decoding the regulatory landscape of melanoma reveals TEADS as regulators of the invasive cell state.
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