- Analytes
- CAST
CAST
Name: |
calpastatin
|
Symbol: |
CAST
|
Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
-
Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95% ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95% ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95% CD151 95.00 0 NM_004357.5/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95% COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95% COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95% CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95% DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95% DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95% DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95% DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95% DSP 95.00 0 NM_004415.4/ interpretable range CS1>95% DST 95.00 0 NM_001723.7/ interpretable range CS1>95% EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95% ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95% ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95% ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95% JUP 95.00 0 NM_002230.4/ interpretable range CS1>95% KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95% KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95% KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95% KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95% LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95% LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95% LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95% MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95% NID1 95.00 0 NM_002508.3/ interpretable range CS1>95% PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95% PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95% PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95% TP63 95.00 0 NM_003722.5/ interpretable range CS1>95% UROD 95.00 0 NM_000374.5/ interpretable range CS1>95% UROS 95.00 0 NM_000375.3/ interpretable range CS1>95% WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95% -
Ichthyosis and erythroderma (98 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.3 ABHD5 95.00 0 NM_016006.6 ADAM17 95.00 0 NM_003183.6 ALDH3A2 95.00 0 NM_000382.3 ALOX12B 95.00 0 NM_001139.3 ALOXE3 95.00 0 NM_021628.3 AP1B1 95.00 0 NM_001127.4 AP1S1 95.00 0 NM_001283.5 ASPRV1 95.00 0 NM_152792.4 ASS1 95.00 0 NM_000050.4 ATP7A 95.00 0 NM_000052.7 BCKDHA 95.00 0 NM_000709.4 BCKDHB 95.00 0 NM_183050.4 BTD 95.00 0 NM_001370658.1 BTK 95.00 0 NM_000061.3 CAPN12 95.00 0 NM_144691.4 CARD14 95.00 0 NM_024110.4 CASP14 95.00 0 NM_012114.3 CAST 95.00 0 NM_001042440.5 CDSN 95.00 0 NM_001264.5 CERS3 95.00 0 NM_178842.5 CHST8 95.00 0 NM_001127896.2 CLDN1 95.00 0 NM_021101.5 CPS1 95.00 0 NM_001875.5 CSTA 95.00 0 NM_005213.4 CTSB 95.00 0 NM_001908.5 CYP4F22 95.00 0 NM_173483.4 DBT 95.00 0 NM_001918.5 DCLRE1C 95.00 0 NM_001033855.3 DLD 95.00 0 NM_000108.5 DSG1 95.00 0 NM_001942.4 EBP 95.00 0 NM_006579.3 ELOVL1 95.00 0 NM_001256399.2 ELOVL4 95.00 0 NM_022726.4 ERCC2 95.00 0 NM_000400.4 ERCC3 95.00 0 NM_000122.2 FLG 95.00 0 NM_002016.2 FLG2 95.00 0 NM_001014342.3 GBA1 95.00 0 NM_001005741.3 GJA1 95.00 0 NM_000165.5 GJB2 95.00 0 NM_004004.6 GJB3 95.00 0 NM_024009.3 GJB4 95.00 0 NM_153212.3 GJB6 95.00 0 NM_006783.5 GTF2E2 95.00 0 NM_002095.6 GTF2H5 95.00 0 NM_207118.3 HLCS 95.00 0 NM_000411.8 IL36RN 95.00 0 NM_012275.3 KDSR 95.00 0 NM_002035.4 KIT 95.00 0 NM_000222.3 KRT1 95.00 0 NM_006121.4 KRT10 95.00 0 NM_000421.5 KRT14 95.00 0 NM_000526.5 KRT16 95.00 0 NM_005557.4 KRT2 95.00 0 NM_000423.3 KRT5 95.00 0 NM_000424.4 KRT6C 95.00 0 NM_173086.5 KRT83 95.00 0 NM_002282.3 KRT9 95.00 0 NM_000226.4 LIPN 95.00 0 NM_001102469.2 LORICRIN 95.00 0 NM_000427.3 MBTPS2 95.00 0 NM_015884.4 MPLKIP 95.00 0 NM_138701.4 MMUT 95.00 0 NM_000255.4 NIPAL4 95.00 0 NM_001099287.2 NSDHL 95.00 0 NM_015922.3 PCCA 95.00 0 NM_000282.4 PCCB 95.00 0 NM_000532.5 PERP 95.00 0 NM_022121.5 PEX7 95.00 0 NM_000288.4 PHYH 95.00 0 NM_006214.4 PIGL 95.00 0 NM_004278.4 PNPLA1 95.00 0 NM_001145717.1 POMP 95.00 0 NM_015932.6 RAG1 95.00 0 NM_000448.3 RAG2 95.00 0 NM_000536.4 RNF113A 95.00 0 NM_006978.3 SDR9C7 95.00 0 NM_148897.3 SERPINB7 95.00 0 NM_003784.4 SERPINB8 95.00 0 NM_198833.2 SGPL1 95.00 0 NM_003901.4 SLC25A13 95.00 0 NM_014251.3 SLC27A4 95.00 0 NM_005094.4 SLC30A2 95.00 0 NM_001004434.3 SLC39A4 95.00 0 NM_130849.4 SNAP29 95.00 0 NM_004782.4 SPINK5 95.00 0 NM_006846.4 SREBF1 95.00 0 NM_004176.5 ST14 95.00 0 NM_021978.4 STS 95.00 0 NM_000351.7 SULT2B1 95.00 0 NM_177973.2 SUMF1 95.00 0 NM_182760.4 TBX1 95.00 0 NM_080647.1 TGM1 95.00 0 NM_000359.3 TGM5 95.00 0 NM_201631.4 TRPM4 95.00 0 NM_017636.4 VIPAS39 95.00 0 NM_022067.4 VPS33B 95.00 0 NM_018668.5 -
Skin disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AAGAB 100.00 1 ABCA12 99.94 1 ABCB6 99.97 1 ABHD5 99.98 1 ADAM10 99.88 1 ADAR 99.84 1 ADGRE2 98.77 1 ALDH3A2 99.95 1 ALOX12B 100.00 1 ALOXE3 99.98 1 ALX4 100.00 1 ANTXR1 99.83 1 ANTXR2 99.67 1 AP1S1 99.49 1 AP3B1 99.89 1 AP3D1 100.00 1 APCDD1 99.99 1 AQP5 99.88 1 ARHGAP31 100.00 1 ARSL 99.93 1 ATP2A2 99.98 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 AXIN2 100.00 1 BANF1 99.84 1 BCS1L 99.99 1 BLM 99.80 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMS1 85.80 1 BRAF 99.78 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C5 99.92 1 CARD11 99.97 1 CARD14 99.99 1 CASP10 99.85 1 CASP14 99.86 1 CASP8 99.92 1 CAST 99.94 1 CBL 99.95 1 CD151 100.00 1 CDH1 99.98 1 CDH3 99.98 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDSN 99.94 1 CERS3 99.85 1 CHST8 100.00 1 CHUK 99.83 1 CLDN1 99.99 1 CLDN10 99.97 1 COG6 99.86 1 COL17A1 99.98 1 COL18A1 99.99 1 COL7A1 99.99 1 COX7B 99.86 1 CYP11B1 100.00 1 CSTB 99.99 1 CSTA 99.83 1 CTLA4 99.99 1 CTSC 99.97 1 CYLD 99.46 1 CYP11A1 99.99 1 CYP21A2 99.85 1 CYP26C1 99.92 1 CYP4F22 99.97 1 DCAF17 99.84 1 DCLRE1C 99.79 1 DCPS 99.98 1 DDB2 100.00 1 DHCR24 99.93 1 DIP2B 99.65 1 DKC1 99.59 1 DLL4 100.00 1 DOCK6 100.00 1 DOCK8 99.86 1 DPH1 100.00 1 DSC3 99.73 1 DSG1 99.35 1 DSG3 99.97 1 DSG4 99.91 1 DSP 100.00 1 DST 99.52 1 DSTYK 99.83 1 DTNBP1 99.89 1 GLB1 99.92 1 EDA 99.44 1 EDAR 99.89 1 EDARADD 99.98 1 EDN3 100.00 1 EDNRA 99.97 1 EDNRB 99.99 1 ELOVL4 99.91 1 ENPP1 99.88 1 EOGT 99.09 1 EPG5 99.95 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC8 99.79 1 EVC 99.95 1 EVC2 99.97 1 EXPH5 99.81 1 F12 99.99 1 FAM111B 99.98 1 FAS 99.99 1 FASLG 99.84 1 FECH 99.98 1 FERMT1 99.90 1 FGFR1 98.88 1 FGFR3 100.00 1 FOXN1 99.97 1 FZD6 99.95 1 GBA1 96.92 1 GINS1 99.99 1 GJA1 100.00 1 GJB2 100.00 1 GJB3 99.99 1 GJB4 100.00 1 GJB6 100.00 1 GPR143 99.60 1 GREM2 100.00 1 GRHL2 100.00 1 GRIN2B 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 HCCS 99.90 1 HOXC13 99.98 1 HPGD 99.98 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 HR 99.95 1 HRAS 100.00 1 HSPA9 99.96 1 IFT122 99.98 1 IFT43 99.97 1 IKBKG 57.34 1 IL2RA 99.99 1 IL31RA 100.00 1 ITGA3 99.86 1 ITGA6 99.78 1 ITGB4 99.99 1 ITPR2 99.13 1 JUP 99.94 1 KCNH1 99.92 1 KCTD1 99.99 1 KDF1 99.86 1 KDSR 99.99 1 KEAP1 100.00 1 KIT 99.86 1 KITLG 99.46 1 KLHL24 99.90 1 KRAS 99.13 1 KREMEN1 99.88 1 KRT1 99.89 1 KRT10 100.00 1 KRT13 99.98 1 KRT14 99.99 1 KRT16 100.00 1 KRT17 100.00 1 KRT2 99.88 1 KRT3 99.89 1 KRT5 99.98 1 KRT6A 100.00 1 KRT6B 99.95 1 KRT6C 96.59 1 KRT7 99.87 1 KRT74 99.92 1 KRT83 100.00 1 KRT85 99.97 1 KRT9 100.00 1 LAMA4 99.90 1 LAMB3 99.99 1 LAMC2 99.54 1 LBR 99.66 1 LIPH 99.99 1 LIPN 99.94 1 LMNA 99.96 1 LMNB2 99.99 1 LORICRIN 100.00 1 LPAR6 99.99 1 LRMDA 99.87 1 LRP1 99.94 1 LYST 99.87 1 LZTR1 99.46 1 MBTPS2 99.81 1 MC1R 100.00 1 MC2R 100.00 1 MC4R 100.00 1 MCM4 99.96 1 MEN1 99.98 1 MITF 99.98 1 MLPH 100.00 1 MMP1 99.99 1 MPDU1 99.97 1 MPLKIP 99.99 1 MSX1 100.00 1 MYO5A 99.94 1 NECTIN1 99.99 1 NECTIN4 99.97 1 NF1 99.88 1 NFKBIA 99.99 1 NIPAL4 100.00 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NNT 99.87 1 NOP10 99.99 1 NOTCH1 99.98 1 NR5A1 99.92 1 NRAS 99.66 1 NSDHL 99.87 1 OCA2 99.60 1 OSMR 99.95 1 PADI3 99.35 1 PAX3 100.00 1 PAX6 99.95 1 PDGFRB 99.99 1 PEPD 99.98 1 PEX7 99.72 1 PGM3 99.94 1 PHGDH 99.79 1 PHYH 100.00 1 PIEZO1 99.98 1 PIGL 99.98 1 PIGT 99.95 1 PKP1 99.98 1 PLCD1 99.98 1 PLCG2 99.99 1 PLEC 100.00 1 PMVK 99.60 1 PNPLA1 99.98 1 PNPLA2 100.00 1 PNPLA6 99.99 1 POFUT1 100.00 1 POGLUT1 99.99 1 POLA1 99.57 1 POLH 99.85 1 POMC 99.99 1 NT5C3A 99.95 1 PORCN 99.93 1 HCRT 99.85 1 PRKCD 99.96 1 PRKD1 99.96 1 PSAT1 99.98 1 PSENEN 100.00 1 PSMB8 99.96 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTPRF 99.92 1 RAB27A 99.94 1 RAD50 99.75 1 RAF1 99.97 1 RAG1 100.00 1 RAG2 100.00 1 RBM28 99.99 1 RBPJ 99.96 1 RECQL4 100.00 1 RET 99.97 1 RHBDF2 99.95 1 RIN2 99.99 1 RIT1 99.78 1 RMRP 100.00 1 RSPO1 99.99 1 SCN9A 99.83 1 SDR9C7 99.99 1 SERPINB7 99.93 1 SERPINB8 99.98 1 SERPING1 100.00 1 SGPL1 99.95 1 SHOC2 99.96 1 SLC24A5 99.99 1 SLC27A4 100.00 1 SLC29A3 99.98 1 SLC39A4 100.00 1 SLC45A2 100.00 1 SLURP1 100.00 1 SMARCA2 99.95 1 SMARCAD1 99.86 1 SNAI2 100.00 1 SNAP29 99.85 1 SNRPE 99.26 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX18 100.00 1 SPINK5 99.91 1 SPINT1 100.00 1 SPRED1 99.99 1 SRD5A3 99.94 1 ST14 100.00 1 ST3GAL5 99.96 1 STAT3 99.97 1 STIM1 99.99 1 STK11 100.00 1 STS 99.81 1 SULT2B1 99.92 1 SUMF1 99.95 1 TAT 99.99 1 TCHH 99.94 1 TERC 98.59 1 TGM1 99.82 1 TGM3 100.00 1 TGM5 100.00 1 TINF2 100.00 1 TP63 99.97 1 TRPM1 99.96 1 TRPS1 100.00 1 TRPV3 99.90 1 TWIST2 100.00 1 TXNRD2 99.97 1 TYRP1 99.97 1 UBR1 99.93 1 UROD 99.32 1 UROS 100.00 1 USB1 89.62 1 VCX 96.04 1 VCX3A 85.19 1 WDR19 99.80 1 WDR35 99.92 1 WNT10A 100.00 1 XPA 99.68 1 XPC 99.98 1 ZMPSTE24 98.70 1