Basic information
Official Symbol CCDC102B
Descriptioncoiled-coil domain containing 102B
Other AliasesACY1L, AN, C18orf14, HsT1731
Other Descriptioncoiled-coil domain-containing protein 102B
Mutation typeInsert and frame-shift 376-377:L-E^CT, premature termination 363:W->TAG
LocationScaffold000206_1:1412971 1499297 +

  ±  bp flank
WikiWikipedia GeneCard
Sequence
CCDC102B
ATGAATTCAGATTCTGTTCACTCGTTAACTGAGGAAACACAAGTCTCTCA
GATGCAGCAGTCATCACTTAAGCCACACTCTGTCATGGTAGCACCTGCCT
CATCCTCCAGGGATGCCTGGGATACCTGCCTGCCATTTTCTGGGCCACAA
TCTCATGTTGCCCACAGTTTCTGTGCTCACTCATACAGCACCAACCAGTG
GGACATTTGTGAAGAACTACGCCTGAGGGAACTTGAAGAAGTCAAGGCCA
GAGCAGCTCAGATGGAAAAGACCATGCGGTGGTGGTCTGACTGCACCGCC
AACTGGAGAGAAAAATGGAGTAAAGTTCGAGCTGAAAGGAACAGTGCCAG
GGAGGAAGGAAGACAACTCAGAATGAGATTAGAGATGACAATGAAAGAAC
TGAGTGAGCTGAAAAAGAAGCAAAGTTTGTCACCTCAAAAGGAGACATTA
GAAGCCAAAGTTACTCAGGAGCTGAAGCTACCTAGTTTTATAGACATGTC
CTCTGAGCATAAAGATGAATTTCAAAGTAATTCACAAATGTGTGAATCTG
TCAAAGAGTGTTTGATAAAAAGGCAATTTCCTACAAAGGACAATACAATT
AATAAGGAACAAAATGTGGTTACTGATCCATTAATATTAAATAAAGAGAC
GAAACCCAATCTAGATGGTACACTTCTCTTCAAGAACGATGGTGCTGGAG
ACCACACGATGAAACCTGGTCTAAGACTGTCAACAAGAAGCCTGCCCTTG
GAGGATGAAGTAACTGAAATTTCAGCTTTGCGAGTGCATTTGGATGAGTT
CCAAAAAATCATATGGAAGGAAAGAGAAATGCGTGCAGCTTTGGAAAAAG
AAATAGAGCGGCTGGAGTCAGCATTATCGCTATGGAAATGGAAGTATGCA
GAACTCAAAGACTCGAAGCCAAAAACCACGAGCGAGGCTGACATTCTTCT
TGGCCAACATGAAGCTGAAATCGAAGGACTATCAGAAGATATGAAGAAAG
AATGTAAATCTCAAAACGGCAAGAATAGAGTAATCTTTGAGTTAAGAGCA
GAGGTAAGATATTGGATAAAGCATACCTTGGATTAGGACACGAGGGAAGT
ACTTAAAACAGAAAAACAAGGAGAGAGAGAAAATAGAAGGCTAAAGTTCC
CAGTGGAAGAAGTGCAGGAGCTTCTGGACAGGAAAAACAGCTTCAGTGCA
AACTCTCAAAGTCCTATTTTCAAGACTGCACACACTGAACTGCAAGGAAA
AAACAAG

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human5131421Insert and frame-shift 376-377:L-E^CT, Premature termination 363:W->TAG
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
 MetAsnLeuAspSerIleHisArgLeuIleGluGluThrGlnIlePheGlnMetGlnGln
 ||||||   ||||||   |||   |||   ||||||||||||      ||||||||||||
 MetAsnSerAspSerValHisSerLeuThrGluGluThrGlnValSerGlnMetGlnGln
 ATGAATTCAGATTCTGTTCACTCGTTAACTGAGGAAACACAAGTCTCTCAGATGCAGCAG

 SerSerIleLysSerArgGlyAspMetValAlaProAlaSerProProArgAspThrCys
 ||||||   |||            ||||||||||||||||||      ||||||      
 SerSerLeuLysProHisSerValMetValAlaProAlaSerSerSerArgAspAlaTrp
 TCATCACTTAAGCCACACTCTGTCATGGTAGCACCTGCCTCATCCTCCAGGGATGCCTGG

 AsnThrCysPheProLeuHisGlyLeuGlnSerHisAlaAlaHisAsnPheCysAlaHis
    ||||||   |||      |||   |||||||||   ||||||   ||||||||||||
 AspThrCysLeuProPheSerGlyProGlnSerHisValAlaHisSerPheCysAlaHis
 GATACCTGCCTGCCATTTTCTGGGCCACAATCTCATGTTGCCCACAGTTTCTGTGCTCAC

 SerTyrAsnThrAsnLysTrpAspIleCysGluGluLeuArgLeuArgGluLeuGluGlu
 ||||||   ||||||   ||||||||||||||||||||||||||||||||||||||||||
 SerTyrSerThrAsnGlnTrpAspIleCysGluGluLeuArgLeuArgGluLeuGluGlu
 TCATACAGCACCAACCAGTGGGACATTTGTGAAGAACTACGCCTGAGGGAACTTGAAGAA

 ValLysAlaArgAlaAlaGlnMetGluLysThrMetArgTrpTrpSerAspCysThrAla
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 ValLysAlaArgAlaAlaGlnMetGluLysThrMetArgTrpTrpSerAspCysThrAla
 GTCAAGGCCAGAGCAGCTCAGATGGAAAAGACCATGCGGTGGTGGTCTGACTGCACCGCC

 AsnTrpArgGluLysTrpSerLysValArgAlaGluArgAsnSerAlaArgGluGluGly
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 AsnTrpArgGluLysTrpSerLysValArgAlaGluArgAsnSerAlaArgGluGluGly
 AACTGGAGAGAAAAATGGAGTAAAGTTCGAGCTGAAAGGAACAGTGCCAGGGAGGAAGGA

 ArgGlnLeuArgIleLysLeuGluMetAlaMetLysGluLeuSerThrLeuLysLysLys
 ||||||||||||      |||||||||   |||||||||||||||   ||||||||||||
 ArgGlnLeuArgMetArgLeuGluMetThrMetLysGluLeuSerGluLeuLysLysLys
 AGACAACTCAGAATGAGATTAGAGATGACAATGAAAGAACTGAGTGAGCTGAAAAAGAAG

 GlnSerLeuProProGlnLysGluAlaLeuGluAlaLysValThrGlnAspLeuLysLeu
 |||||||||   ||||||||||||   |||||||||||||||||||||   |||||||||
 GlnSerLeuSerProGlnLysGluThrLeuGluAlaLysValThrGlnGluLeuLysLeu
 CAAAGTTTGTCACCTCAAAAGGAGACATTAGAAGCCAAAGTTACTCAGGAGCTGAAGCTA

 ProGlyPheValGluGluSerCysGluHisThrAspGlnPheGlnLeuSerSerGlnMet
 |||   |||         |||   ||||||   |||   ||||||      |||||||||
 ProSerPheIleAspMetSerSerGluHisLysAspGluPheGlnSerAsnSerGlnMet
 CCTAGTTTTATAGACATGTCCTCTGAGCATAAAGATGAATTTCAAAGTAATTCACAAATG

 HisGluSerIleArgGluTyrLeuValLysArgGlnPheSerThrLysGluAspThrAsn
    ||||||      |||   |||   ||||||||||||   ||||||      |||   
 CysGluSerValLysGluCysLeuIleLysArgGlnPheProThrLysAspAsnThrIle
 TGTGAATCTGTCAAAGAGTGTTTGATAAAAAGGCAATTTCCTACAAAGGACAATACAATT

 AsnLys  >>>> Target Intron 1 >>>>  GluGlnGlyValValIleAspSerL
 ||||||           4357 bp           ||||||   ||||||   |||   |
 AsnLys++                         ++GluGlnAsnValValThrAspProL
 AATAAGgt                         agGAACAAAATGTGGTTACTGATCCAT

 euLysLeuSerGluGluMetLysProAsnLeuAspGlyValAspLeuPheAsnAsnGlyG
 ||   |||      |||   ||||||||||||||||||      ||||||   |||   |
 euIleLeuAsnLysGluThrLysProAsnLeuAspGlyThrLeuLeuPheLysAsnAspG
 TAATATTAAATAAAGAGACGAAACCCAATCTAGATGGTACACTTCTCTTCAAGAACGATG

 lySerGlyAsnGlyGluThrLysThrGlyLeuArgLeuLysAlaIleAsnLeuProLeuG
 ||   |||            |||   ||||||||||||            ||||||||||
 lyAlaGlyAspHisThrMetLysProGlyLeuArgLeuSerThrArgSerLeuProLeuG
 GTGCTGGAGACCACACGATGAAACCTGGTCTAAGACTGTCAACAAGAAGCCTGCCCTTGG

 luAsnGluValThrGluIleSerAlaLeuGlnValHisLeuAspGluPheGlnLysIleL
 ||   ||||||||||||||||||||||||   ||||||||||||||||||||||||||| 
 luAspGluValThrGluIleSerAlaLeuArgValHisLeuAspGluPheGlnLysIleI
 AGGATGAAGTAACTGAAATTTCAGCTTTGCGAGTGCATTTGGATGAGTTCCAAAAAATCA

 euTrpLysGluArg{Gl}  >>>> Target Intron 2 >>>>  {u}MetArgThrA
   ||||||||||||{||}           8897 bp           {|}||||||   |
 leTrpLysGluArg{Gl}++                         ++{u}MetArgAlaA
 TATGGAAGGAAAGA{GA}gt                         ag{A}ATGCGTGCAG

 laLeuGluLysGluIleGluArgLeuGluSerAlaLeuSerLeuTrpLysTrpLysTyrG
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| 
 laLeuGluLysGluIleGluArgLeuGluSerAlaLeuSerLeuTrpLysTrpLysTyrA
 CTTTGGAAAAAGAAATAGAGCGGCTGGAGTCAGCATTATCGCTATGGAAATGGAAGTATG

 luGluLeuLysGluSerLysProLysAsnValLysGlu  >>>> Target Intron 3
   |||||||||   ||||||||||||         |||           35879 bp   
 laGluLeuLysAspSerLysProLysThrThrSerGlu++                    
 CAGAACTCAAAGACTCGAAGCCAAAAACCACGAGCGAGgt                    

  >>>>  PheAspIleLeuLeuGlyGlnHisAsnAspGluMetGlnGluLeuSerGlyAs
           |||||||||||||||||||||      |||         ||||||     
      ++AlaAspIleLeuLeuGlyGlnHisGluAlaGluIleGluGlyLeuSerGluAs
      agGCTGACATTCTTCTTGGCCAACATGAAGCTGAAATCGAAGGACTATCAGAAGA

 nIleLysGluGluSerLysSerGlnAsnSerLysAspArgValIleCysGluLeuArgAl
     |||   |||   ||||||||||||   |||   |||||||||   |||||||||||
 pMetLysLysGluCysLysSerGlnAsnGlyLysAsnArgValIlePheGluLeuArgAl
 TATGAAGAAAGAATGTAAATCTCAAAACGGCAAGAATAGAGTAATCTTTGAGTTAAGAGC

 aGluLeuGluArgLeuGlnAlaGluAsn  >>>> Target Intron 4 >>>>  Thr
 ||||      |||                          35935 bp          |||
 aGluVal---ArgTyrTrpIleLysHis++                         +-Thr
 AGAGGTA---AGATATTGGATAAAGCATgt                         atACC

 SerGluTrpAspLysArgGluIleLeuGluArgGluLysGlnGlyLeu--GluArgGluA
          |||   ||||||   |||      ||||||||||||   ##||||||||||
 LeuAsp***AspThrArgGluValLeuLysThrGluLysGlnGly---##GluArgGluA
 TTGGATTAGGACACGAGGGAAGTACTTAAAACAGAAAAACAAGGA---CTGAGAGAGAAA

 snArgArgLeuLysIleGlnValLysGluMetGluGluLeuLeuAspLysLysAsnArgL
 ||||||||||||||      |||   |||      ||||||||||||   ||||||    
 snArgArgLeuLysPheProValGluGluValGlnGluLeuLeuAspArgLysAsnSerP
 ATAGAAGGCTAAAGTTCCCAGTGGAAGAAGTGCAGGAGCTTCTGGACAGGAAAAACAGCT

 euSerAlaAsnSerGlnSerProAspPheLysMetSerGlnIleAspLeuGlnGluLysA
   |||||||||||||||||||||   ||||||               ||||||   ||||
 heSerAlaAsnSerGlnSerProIlePheLysThrAlaHisThrGluLeuGlnGlyLysA
 TCAGTGCAAACTCTCAAAGTCCTATTTTCAAGACTGCACACACTGAACTGCAAGGAAAAA

 snGln
 ||   
 snLys
 ACAAG


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