RAP1B

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Name:	RAP1B, member of RAS oncogene family
Symbol:	RAP1B
Version of Orphanet:	2020-02-01 05:07:10
Synonyms:	DKFZp586H0723 K-REV RAL1B
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	01 Feb 2020 - 12:07

Related Genetic Tests

• Kabuki syndrome (gene panel)
• Trombosis - Hemostasis (gene panel)

Related Diseases

• Kabuki syndrome

Related Gene Panels

• Kabuki (7 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  KMT2D	100.00	1
  KDM6A	100.00	1
  KMT2A	100.00	1
  HNRNPK	100.00	1
  RAP1A	100.00	1
  RAP1B	100.00	1
  PACS1	10.00	0	EXON 4

• Trombosis - Hemostasis (108 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC4	95.00	0	NM_005845.4/ interpretable range CS1>95%
  ABCG5	95.00	0	NM_022436.2/ interpretable range CS1>95%
  ABCG8	95.00	0	NM_022437.2/ interpretable range CS1>95%
  ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
  ACTN1	95.00	0	NM_001130004.1/ interpretable range CS1>95%
  ACVRL1	95.00	0	NM_000020.2/ interpretable range CS1>95%
  ADAMTS13	95.00	0	NM_139025.4/ interpretable range CS1>95%
  ANKRD26	95.00	0	NM_014915.2/ interpretable range CS1>95%
  ANO6	95.00	0	NM_001025356.2/ interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.1/ interpretable range CS1>95%
  ARPC1B	95.00	0	NM_005720.3/ interpretable range CS1>95%
  BLOC1S3	95.00	0	NM_212550.3/ interpretable range CS1>95%
  BLOC1S5	95.00	0	NM_201280.2/ interpretable range CS1>95%
  BLOC1S6	95.00	0	NM_012388.2/ interpretable range CS1>95%
  CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
  CHST14	95.00	0	NM_130468.3/ interpretable range CS1>95%
  COL1A1	95.00	0	NM_000088.3/ interpretable range CS1>95%
  COL3A1	95.00	0	NM_000090.3/ interpretable range CS1>95%
  COL4A1	95.00	0	NM_001845.5/ interpretable range CS1>95%
  COL4A2	95.00	0	NM_001846.3/ interpretable range CS1>95%
  COL5A1	95.00	0	NM_000093.4/ interpretable range CS1>95%
  COL5A2	95.00	0	NM_000393.3/ interpretable range CS1>95%
  CYCS	95.00	0	NM_018947.5/ interpretable range CS1>95%
  DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
  ENG	95.00	0	NM_000118.3/ interpretable range CS1>95%
  ETV6	95.00	0	NM_001987.4/ interpretable range CS1>95%
  F10	95.00	0	NM_000504.3/ interpretable range CS1>95%
  F11	95.00	0	NM_000128.3/ interpretable range CS1>95%
  F12	95.00	0	NM_000505.3/ interpretable range CS1>95%
  F13A1	95.00	0	NM_000129.3/ interpretable range CS1>95%
  F13B	95.00	0	NM_001994.2/ interpretable range CS1>95%
  F2	95.00	0	NM_000506.3/ interpretable range CS1>95%
  F5	95.00	0	NM_000130.4/ interpretable range CS1>95%
  F7	95.00	0	NM_000131.4/ interpretable range CS1>95%
  F8	95.00	0	NM_000132.3/ interpretable range CS1>95%
  F9	95.00	0	NM_000133.3/ interpretable range CS1>95%
  FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
  FGA	95.00	0	NM_021871.2/ interpretable range CS1>95%
  FGB	95.00	0	NM_005141.4/ interpretable range CS1>95%
  FGG	95.00	0	NM_000509.4/ interpretable range CS1>95%
  FLII	95.00	0	NM_002017.4/ interpretable range CS1>95%
  FLNA	95.00	0	NM_001456.3/ interpretable range CS1>95%
  FYB1	95.00	0	NM_001465.5/ interpretable range CS1>95%
  GATA1	95.00	0	NM_002049.3/ interpretable range CS1>95%
  GDF2	95.00	0	NM_016204.3/ interpretable range CS1>95%
  GFI1B	95.00	0	NM_004188.5/ interpretable range CS1>95%
  GGCX	95.00	0	NM_000821.5/ interpretable range CS1>95%
  GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
  GP1BA	95.00	0	NM_000173.6/ interpretable range CS1>95%
  GP1BB	95.00	0	NM_000407.4/ interpretable range CS1>95%
  GP6	95.00	0	NM_001083899.2/ interpretable range CS1>95%
  GP9	95.00	0	NM_000174.4/ interpretable range CS1>95%
  HOXA11	95.00	0	NM_005523.5/ interpretable range CS1>95%
  HPS1	95.00	0	NM_000195.3/ interpretable range CS1>95%
  HPS3	95.00	0	NM_032383.3/ interpretable range CS1>95%
  HPS4	95.00	0	NM_022081.5/ interpretable range CS1>95%
  HPS5	95.00	0	NM_181507.1/ interpretable range CS1>95%
  HPS6	95.00	0	NM_024747.5/ interpretable range CS1>95%
  HRG	95.00	0	NM_000412.3/ interpretable range CS1>95%
  IKZF5	95.00	0	NM_001271840.1/ interpretable range CS1>95%
  ITGA2B	95.00	0	NM_000419.3/ interpretable range CS1>95%
  ITGB3	95.00	0	NM_000212.2/ interpretable range CS1>95%
  KDSR	95.00	0	NM_002035.2/ interpretable range CS1>95%
  KNG1	95.00	0	NM_001102416.2/ interpretable range CS1>95%
  LMAN1	95.00	0	NM_005570.3/ interpretable range CS1>95%
  LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
  MCFD2	95.00	0	NM_139279.5/ interpretable range CS1>95%
  MECOM	95.00	0	NM_001105078.3/ interpretable range CS1>95%
  MPIG6B	95.00	0	NM_025260.3/ interpretable range CS1>95%
  MPL	95.00	0	NM_005373.2/ interpretable range CS1>95%
  MYH9	95.00	0	NM_002473.5/ interpretable range CS1>95%
  NBEA	95.00	0	NM_015678.4/ interpretable range CS1>95%
  NBEAL2	95.00	0	NM_015175.2/ interpretable range CS1>95%
  P2RY12	95.00	0	NM_022788.4/ interpretable range CS1>95%
  PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
  PLA2G4A	95.00	0	NM_024420.2/ interpretable range CS1>95%
  PLAU	95.00	0	NM_002658.3/ interpretable range CS1>95%
  PLG	95.00	0	NM_000301.3/ interpretable range CS1>95%
  PROC	95.00	0	NM_000312.3/ interpretable range CS1>95%
  PROS1	95.00	0	NM_000313.3/ interpretable range CS1>95%
  PTGS1	95.00	0	NM_000962.3/ interpretable range CS1>95%
  RASGRP2	95.00	0	NM_153819.1/ interpretable range CS1>95%
  RBM8A	95.00	0	NM_005105.4/ interpretable range CS1>95%
  RUNX1	95.00	0	NM_001754.4/ interpretable range CS1>95%
  SERPINC1	95.00	0	NM_000488.3/ interpretable range CS1>95%
  SERPIND1	95.00	0	NM_000185.3/ interpretable range CS1>95%
  SERPINE1	95.00	0	NM_000602.4/ interpretable range CS1>95%
  SERPINF2	95.00	0	NM_000934.3/ interpretable range CS1>95%
  SLFN14	95.00	0	NM_001129820.1/ interpretable range CS1>95%
  SMAD4	95.00	0	NM_005359.5/ interpretable range CS1>95%
  SRC	95.00	0	NM_005417.4/ interpretable range CS1>95%
  STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
  STXBP2	95.00	0	NM_006949.3/ interpretable range CS1>95%
  TBXA2R	95.00	0	NM_001060.5/ interpretable range CS1>95%
  TBXAS1	95.00	0	NM_001061.4/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  THPO	95.00	0	NM_000460.3/ interpretable range CS1>95%
  TPM4	95.00	0	NM_001145160.1/ interpretable range CS1>95%
  TUBB1	95.00	0	NM_030773.3/ interpretable range CS1>95%
  VIPAS39	95.00	0	NM_022067.3/ interpretable range CS1>95%
  VKORC1	95.00	0	NM_024006.4/ interpretable range CS1>95%
  VPS33B	95.00	0	NM_018668.4/ interpretable range CS1>95%
  VWF	95.00	0	NM_000552.3/ interpretable range CS1>95%
  WAS	95.00	0	NM_000377.2/ interpretable range CS1>95%
  RAP1B	95.00	0	NM_015646.6/ interpretable range CS1>95%
  KLKB1	95.00	0