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  2. ABCA3

ABCA3

Analyte Export to PDF
Name:
ATP binding cassette subfamily A member 3
Symbol:
ABCA3
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
ABC-C
EST111653
LBM180
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
Changed:
  • Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 100.00 0 NM_001089.2
    ACD 100.00 0 NM_001082486.1
    CSF2RA 100.00 0 NM_006140.4
    CSF2RB 100.00 0 NM_000395.2
    DKC1 100.00 0 NM_001363.4
    GATA2 100.00 0 NM_032638.4
    GBA1 100.00 0 NM_001005741.2
    HPS1 100.00 0 NM_000195.3
    HPS4 100.00 0 NM_022081.5
    NHP2 100.00 0 NM_017838.3
    NKX2-1 100.00 0 NM_001079668.2
    PARN 100.00 0 NM_002582.3
    RTEL1 100.00 0 NM_032957.4
    SFTPA1 100.00 0 NM_005411.4
    SFTPA2 100.00 0 NM_001098668.2
    SFTPC 100.00 0 NM_003018.3
    SLC34A2 100.00 0 NM_006424.2
    SMPD1 100.00 0 NM_000543.4
    TERC 100.00 0 NR_001566.1
    TERT 100.00 0 NM_198253.2
    TINF2 100.00 0 NM_001099274.1
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1
  • chILD (35 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.4/ interpretable range CS1>95%
    CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95%
    FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95%
    GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95%
    HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95%
    MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95%
    NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95%
    SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95%
    SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95%
    SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95%
    SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95%
    STING1 95.00 0 NM_198282.4/ interpretable range CS1>95%
    TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95%
    MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95%
    SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95%
    RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%
    AGR2 95.00 0 NM_006408.4/interpretable range CS1>95%