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  2. SPEF2

SPEF2

Analyte Export to PDF
Name:
sperm flagellar 2
Symbol:
SPEF2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CT122
FLJ23577
KPL2
cancer/testis antigen 122
XREF(s):
Orphanet
HGNC
Ensembl
SwissProt
OMIM
Created:
04 Feb 2020 - 15:15
Changed:
22 Jun 2023 - 16:14
  • Heterotaxie PCD - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTC1 98.57 0
    ACVR2B 99.99 0
    AK7 99.93 0
    ALMS1 99.90 0
    ANKS6 100.00 0
    BBS1 100.00 0
    BBS10 99.98 0
    BBS2 99.90 0
    BCL9L 99.99 0
    BCOR 99.97 0
    BRAF 99.78 0
    C1orf127 99.98 0
    CBL 99.95 0
    CCDC103 99.68 0
    CCDC39 99.74 0
    CCDC40 100.00 0
    CCDC65 99.80 0
    CCNO 100.00 0
    CENPF 99.97 0
    CEP164 99.99 0
    CEP290 98.10 0
    CFAP298 99.96 0
    CFAP300 99.47 0
    CFAP45 99.97 0
    CFAP52 99.92 0
    CFAP53 99.95 0
    CFAP58 99.96 0
    CFC1 21.93 0
    CFTR 99.45 0
    CHD7 99.99 0
    CITED2 100.00 0
    CRELD1 99.99 0
    DAW1 99.90 0
    DGAT2L6 99.97 0
    DNAAF1 99.99 0
    DNAAF11 99.80 0
    DNAAF2 99.91 0
    DNAAF3 99.99 0
    DNAAF4 99.78 0
    DNAAF5 99.99 0
    DNAAF6 98.73 0
    DNAH1 99.98 0
    DNAH11 99.93 0
    DNAH12 99.36 0
    DNAH14 99.64 0
    DNAH17 99.98 0
    DNAH5 99.98 0
    DNAH8 99.84 0
    DNAH9 99.79 0
    DNAI1 99.92 0
    DNAI2 99.86 0
    DNAJB13 99.91 0
    DRC1 99.93 0
    DYNC1H1 99.99 0
    DYNLT2 99.95 0
    ELN 99.86 0
    EVC 99.95 0
    EVC2 99.97 0
    FOXF1 99.99 0
    FOXH1 100.00 0
    FOXJ1 100.00 0
    GAS2L2 100.00 0
    GAS8 100.00 0
    GATA4 99.99 0
    GATA6 99.90 0
    GDF1 100.00 0
    GJA1 100.00 0
    GPC3 99.60 0
    HAND1 99.99 0
    HES7 100.00 0
    HYDIN 81.28 0
    IFT46 99.58 0
    INVS 99.94 0
    JAG1 100.00 0
    KIF7 100.00 0
    LEFTY1 99.98 0
    LEFTY2 100.00 0
    LMBRD1 99.67 0
    CIROP 91.91 0
    LMNA 99.96 0
    LRRC56 99.98 0
    LZTFL1 100.00 0
    MAP2K1 99.98 0
    MAP2K2 99.99 0
    MCIDAS 100.00 0
    MED13L 99.99 0
    MEGF8 99.90 0
    MEIS2 99.97 0
    MKS1 99.92 0
    MMP21 99.99 0
    MNS1 99.86 0
    MRE11 99.93 0
    MYH6 100.00 0
    NAT10 99.97 0
    NEK10 96.92 0
    NEK9 99.99 0
    NKX2-5 99.75 0
    NKX2-6 100.00 0
    NME5 99.81 0
    NME8 99.83 0
    NODAL 99.98 0
    NOTCH1 99.98 0
    NOTCH2 99.03 0
    NPHP3 99.89 0
    NR2F2 100.00 0
    NSD1 99.98 0
    ODAD1 96.04 0
    ODAD2 98.19 0
    ODAD3 99.96 0
    ODAD4 99.85 0
    OFD1 99.68 0
    PITRM1 99.89 0
    PKD1L1 99.84 0
    PKD2 99.91 0
    PQBP1 99.99 0
    PRRX1 99.56 0
    PTPN11 99.98 0
    RAF1 99.97 0
    RIT1 99.78 0
    RPGR 94.45 0
    RSPH1 99.87 0
    RSPH3 99.94 0
    RSPH4A 99.95 0
    RSPH9 99.99 0
    SERPINE2 99.97 0
    SHOC2 99.96 0
    SHROOM3 99.99 0
    SMAD2 99.92 0
    SMAD6 100.00 0
    SOS1 99.68 0
    SPAG1 99.78 0
    SPEF2 99.93 0
    STK36 99.98 0
    TBX1 99.95 0
    TBX5 99.98 0
    TCTN2 99.99 0
    TP73 100.00 0
    TTC12 99.97 0
    TTC8 99.67 0
    UBR1 99.93 0
    WDR35 99.92 0
    WDR47 95.08 0
    ZFPM2 100.00 0
    ZIC3 99.90 0
    ZMPSTE24 98.70 0
    ZMYND10 99.99 0
    ZNF423 98.94 0
  • Primary Ciliary Dyskinesia (61 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ODAD2 100.00 0 NM_018076.5
    CCDC103 100.00 0 NM_213607.3
    ODAD1 100.00 0 NM_144577.4
    ODAD3 100.00 0 NM_145045.5
    CCDC39 100.00 0 NM_181426.2
    CCDC40 100.00 0 NM_017950.4
    CCDC65 100.00 0 NM_033124.5
    CCNO 100.00 0 NM_021147.5
    CFAP251 100.00 0 NM_144668.6
    CFAP298 100.00 0 NM_021254.4
    CFAP300 100.00 0 NM_032930.3
    CFAP45 100.00 0 NM_012337.3
    CFAP53 100.00 0 NM_145020.5
    CFAP57 100.00 0 NM_152498.3
    CFAP74 100.00 0 NM_001304360.2
    DNAAF1 100.00 0 NM_178452.6
    DNAAF2 100.00 0 NM_018139.2
    DNAAF3 100.00 0 NM_001256714.1
    DNAAF4 100.00 0 NM_130810.4
    DNAAF5 100.00 0 NM_017802.4
    DNAAF6 100.00 0 NM_001169154.2
    DNAH11 100.00 0 NM_001277115.2
    DNAH17 100.00 0 NM_173628.4
    DNAH2 100.00 0 NM_020877.5
    DNAH5 100.00 0 NM_001369.3
    DNAH6 100.00 0 NM_001370.2
    DNAH8 100.00 0 NM_001206927.2
    DNAH9 100.00 0 NM_031427.4
    DNAI1 100.00 0 NM_012144.4
    DNAI2 100.00 0 NM_023036.5
    DNAJB13 100.00 0 NM_153614.4
    DRC1 100.00 0 NM_145038.5
    ENKUR 100.00 0 NM_145010.4
    FOXJ1 100.00 0 NM_001454.4
    GAS2L2 100.00 0 NM_139285.4
    GAS8 100.00 0 NM_001481.3
    HYDIN 100.00 0 NM_001270974.2
    LRRC56 100.00 0 NM_198075.4
    DNAAF11 100.00 0 NM_012472.6
    MCIDAS 100.00 0 NM_001190787.3
    MNS1 100.00 0 NM_018365.4
    NEK10 100.00 0 NM_199347.4
    NME5 100.00 0 NM_003551.3
    NME8 100.00 0 NM_016616.5
    OFD1 100.00 0 NM_003611.3
    RPGR 100.00 0 NM_000328.3
    RSPH1 100.00 0 NM_080860.4
    RSPH3 100.00 0 NM_031924.8
    RSPH4A 100.00 0 NM_001010892.3
    RSPH9 100.00 0 NM_152732.5
    SPAG1 100.00 0 NM_172218.3
    SPEF2 100.00 0 NM_024867.4
    STK36 100.00 0 NM_015690.5
    TEKT1 100.00 0 NM_053285.2
    TP73 100.00 0 NM_005427.4
    TTC12 100.00 0 NM_017868.4
    ODAD4 100.00 0 NM_031421.5
    ZMYND10 100.00 0 NM_015896.4
    CFAP221 100.00 -2
    DNAL1 100.00 -2 NM_031427.4
    DAW1 100.00 -2 NM_178821.3