Basic information |
Official Symbol | CCDC102B |
Description | coiled-coil domain containing 102B |
Other Aliases | ACY1L, AN, C18orf14, HsT1731 |
Other Description | coiled-coil domain-containing protein 102B |
Mutation type | Insert and frame-shift 376-377:L-E^CT, premature termination 363:W->TAG |
Location | Scaffold000206_1:1412971 1499297 + |
Wiki | Wikipedia 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 specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 513 | 1 | 421 | Insert 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 // |