A. Molecular pathology

• MGEA5
  13 January

  |WKP|
  Definition: Bifunctional protein NCOAT is a protein that in humans is encoded by the MGEA5 gene.
  Pathology
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in : myxoinflammatory fibroblastic sarcoma (#21717526#) hemosiderotic fibrolipomatous tumor (#21717526#) PHAT pleomorphic hyalinizing angiectatic tumor
  Open References
  Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous (...)

• EPC1
  13 January

  WKP
  Pathology
  EPC1-PHF1 gen fusion in ossifying fibromyxoid tumor (#24285434#)
  Open references
  Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors—molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD. Genes Chromosomes Cancer. 2014 Feb;53(2):183-93. doi:10.1002/gcc.22132. PMID: #24285434# (...)

• PHFs
  13 January

  Definition: PHD finger genes (PHFs) are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. Two transcript variants have been found for this gene.
  Pathology
  MEAF6-PHF1 gene fusion in ossifying fibromyxoid tumor
  Members
  PHF1 PHF2 PHF3 PHF4 PHF5 PHF6 PHF7 PHF8 PHF9 PHF10 PHF11 PHF12 PHF13 PHF14 PHF15 PHF16 PHF17 PHF18 PHF19 PHF20 PHF21A PHF21B
  Open references
  Novel ZC3H7B-BCOR, (...)

• PHF1
  13 January

  WKP
  Definition: PHD finger protein 1 is a protein that in humans is encoded by the PHF1 gene. This gene encodes a protein with significant sequence similarity to Drosophila Polycomblike. The encoded protein contains a zinc finger-like PHD (plant homeodomain) finger which is distinct from other classes of zinc finger motifs and which shows the typical Cys4-His-Cys3 arrangement.
  PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting (...)

• MEAF6
  13 January

  WKP
  Definition: Chromatin modification-related protein MEAF6 is a protein that in humans is encoded by the MEAF6 gene.
  Pathology
  MEAF6-PHF1 gene fusion in ossifying fibromyxoid tumor
  Open references
  Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors—molecular characterization shows genetic overlap with endometrial stromal sarcoma. Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD. Genes Chromosomes Cancer. (...)

• PBX3
  13 January

  |WKP|
  Pathology
  EWSR1-PBX3 gene fusion in myoepithelial tumor (#25231231#)
  Open references
  EWSR1-PBX3: a novel gene fusion in myoepithelial tumors.
  Agaram NP, Chen HW, Zhang L, Sung YS, Panicek D, Healey JH, Nielsen GP, Fletcher CD, Antonescu CR. Genes Chromosomes Cancer. 2015 Feb;54(2):63-71. doi:10.1002/gcc.22216. PMID: #25231231#

• MKL2
  13 January

  |WKP|
  Open references
  C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA. Genes Chromosomes Cancer. 2010 Sep;49(9):810-8. doi:10.1002/gcc.20788.
  PMID: #20607705# Free
  Paywall references
  Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases. Flucke U, Tops BB, de Saint Aubain Somerhausen N, Bras J, Creytens DH, (...)

• RHOH
  13 January

  AHRR WKP
  Definition: RhoH (Ras homolog gene family, member H) is a small ( 21 kDa) signaling G protein (more specifically a GTPase), and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOH.
  Pathology
  RHOH-NCOA2 gene fusion involving RHOH ( AHRR ) and NCOA2 genes by t(5;8)(p15;q13) in soft tissue angiofibroma
  RHOH-BCL6 ( LAZ3 ) gene fusion in non-Hodgkin lymphoma. See BCL6 ( LAZ3 )
  Open references
  Gene fusions AHRR-NCOA2, (...)

• ACTL6A
  12 January

  Definition: Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.
  Interactions
  ACTL6A has been shown to interact with SMARCA2, Myc, Transformation/transcription domain-associated protein, RuvB-like 1 and SMARCA4.
  Pathology
  ACTL6A Is Co-Amplified with p63 in Squamous Cell Carcinoma to Drive YAP Activation, Regenerative Proliferation, and Poor Prognosis doi:10.1016/j.ccell.2016.12.001.
  ACTL6A is co-amplified, co-expressed, and physically associated with p63 (...)

• GPRC5A
  12 January

  WKP
  Retinoic acid-induced protein 3 is a protein that in humans is encoded by the GPRC5A gene.
  Pathology
  GPRC5A is dysregulated in many human cancers and in other diseases.

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