- EST 'AV882028' >
- Clone 'cima855707' >
- Transcript 'KH2012:KH.C4.418.v1....'
Transcript Model
Transcript Id
KH2012:KH.C4.418.v1.A.ND1-1
Possible name(s)
DYSF; FER1L6; OTOF
Gene model
Location
KhC4 [3,900,280 / 3,933,009]
>KH.C4.418.v1.A.ND1-1
MSLEVRIFSVGGLKGKGSRNARITFRGHSYSTRTIEDCENEAPFNEIFDWPVASQIEDRE
MISIDVYNYNKVFSNRLIGRFQMVLQQVVKDGEITLEEPLLDSNNTALKTTISLQIKYLA
PDGTVGNWSIEDFEPQKNFNDAMSMKSSSTITSKRKGIGILGGFRSKQRPVDDEDLVITN
MGALEPATPSREPRILLNQSNVALDNISVVSMTMMDKPVTNKRSKPETRFESGALKLQDF
QVSVTVIEARQLSGTNMDPVVMVQIGEDKKYTTQKESTNCPYYNEVFVFDYRLAKQVVFD
KILTLSVIHSRNLLRSGTLVGKFKIDLGTIYANTDHSFSRKWAVLTDPDDLNTGPKGYLK
VDVSVVGKGDTIKISKVNEEEEDDIENNLLLPEGVQAERQRARFIFKIYQADGLPKMNTS
ITEKLKTVLQGEAKDLVDPFVEITFCDQKGRTSVRKNSYEPCWNEQIIFTELFPPLCKRI
KVQIRDKDNLNNTVIGTTYISLDKIANSGDRGFLPTFGPTYVNMYGSPRNYTMVNEHSDL
NEGLGEGVAFRSRLLMALSVELVNINASEGQGSSDVEVEYIPALSELGAGKMEEFFLFGS
FLEANMIDRTMADKPVTFEVTIGNYGNDIDGANLSQKRRRSDGNDSDDSLEDSDDESQSL
LKGSMSDDPNIRPLTLPVKPLTHDKYYYHMPFFEQKPCVYLTSYWHDHKRRLYNSNIMHR
VADKLDEGLQDVQEMIKTGHERPDRRLRGVAEELINGCASYTRLVKGTGGMGAGRTRLDR
ERNKLCLREVEWIGKEAKKVKTFVKPSTLKENMAKMKSLYSKFKGLCDDPQHSIPDVFIW
MLSGHKRVAYARIAARQILHSVRQEECGEHCGKIQTIFLRLPGKKSLGLAGWSIQAKIDI
YLWFGLAKNKRDFLKGLPQGYTTTRAGTSIKAPPKFLNYPDRLQFELRAHMYQARGLIAA
DDTGLSDPFAKVIFSTHTDTTQVIDETLSPTWDQTLIMPNITLYGRAEELRDDPPIIIVE
IFDQDNVGKNEYIGRTIAKPVVKMSSERYEEPRFPPQLDWFQVYRGMTKAGEVLAAFELL
QIKSAADEDSMKITESIQTNQGHKFTVPKGIRPLLAKHRVEVLFWGLRDLKRVQLISVDR
PRVDIEIAGRCVSSCLINNYKKNPNFAEPIKFIEDVDLPEVEYWCPPISITCIDCRAFGR
SVLVGTHIISNISKFVFRPPDKSKIYTVYFLGIKRNGEVSTETNDTVVNIYDTPTPPPSG
MVEISLEAECELVHFFKYDARFLEKNVKRRGSSKDDDEDPLDEATLDWWSKYFASLETLN
EQKQKQDDAGVQDVYNDEDDDSVGAVGVVKQAKKSLGAPVRKWKTKKLPIDELKIYDTEL
ENANEFSGFNDLLNSFDLYRGKREDLADDITDQKRIVGNFKGAFKIYRHPLPHYVEQPDP
QYGMFKGLPSNEPIHVLVRAYIIRATDLHPTDPNGKSDPYIVISLGDNKINDKENYISKQ
LNPTFGKAFDFEATFPMESILTVQIYDWDLLSADDLIGETKIDLENRFYSKHRPLCGVAE
KYAIFGYNQWRDPMKPSETLKKLCKELKLDGPHFMPGKVRIGNKTFTGAIELEDENGHKK
PTEEHVALVALRNWEEISKVGCKLVPEHVETRSLYSSEKPGIEQGRIEMWVDMFPMDMPL
PGPPVDVSPRKPKGYELRVIIWNTEDVICEDDDFFTGEKMSDIYVKGWLLGDDKQETDIH
YRSLTGEGNFNWRFIYPFDYLVAEEKCVVTKKESMFSWDETEFKIPPRLNLQVWDADHFS
ADDFLGSLTLDLTRLARGAKSANKCSLNMAAEEDDNSNVPMISIFKQRRIKGWWPFTAKN
DQDELEITGKVEAEISLLTAEEAEKNPAGYGREEPDPLEKPNRPDTSFVWFMNPLKSLRY
LICARFKWLIIKVFIALLLIALLVLFIYSSPSWIMKKIVGA
>KH2012:KH.C4.418.v1.A.ND1-1
ATGTCGCTTGAGGTGCGAATCTTTAGCGTTGGCGGCCTAAAGGGCAAAGGCTCAAGAAAC
GCTCGGATTACTTTCAGAGGTCACTCCTACAGCACACGAACGATCGAAGATTGCGAAAAT
GAAGCTCCATTTAACGAGATTTTCGACTGGCCTGTGGCGAGTCAGATCGAAGATCGAGAA
ATGATATCAATCGACGTCTACAATTACAATAAAGTATTTTCCAACAGGTTAATTGGCCGA
TTTCAAATGGTCCTCCAGCAAGTTGTAAAGGATGGAGAGATAACTTTGGAGGAACCTCTC
TTGGACTCCAACAACACAGCCCTAAAGACGACCATAAGCCTACAAATAAAGTACCTCGCC
CCCGACGGTACAGTTGGGAATTGGTCCATCGAAGACTTCGAGCCTCAGAAAAATTTCAAC
GATGCTATGAGCATGAAGTCCTCGTCGACGATCACGTCGAAACGGAAAGGCATTGGAATA
CTTGGAGGATTCCGGAGCAAGCAAAGACCTGTTGATGATGAAGATCTTGTAATCACGAAC
ATGGGAGCTTTAGAACCTGCTACGCCCTCACGAGAACCTCGAATCTTACTTAACCAATCT
AATGTCGCATTGGACAATATCTCAGTCGTTTCAATGACAATGATGGACAAACCGGTTACT
AACAAAAGATCCAAGCCAGAAACTCGGTTCGAATCAGGTGCATTAAAACTGCAAGACTTC
CAGGTCTCTGTCACCGTAATCGAGGCACGACAGCTCAGTGGAACGAACATGGACCCTGTA
GTGATGGTACAAATTGGAGAAGACAAAAAGTACACAACACAGAAGGAGTCAACGAACTGT
CCATACTACAACGAAGTTTTCGTGTTCGATTATCGGCTTGCAAAACAAGTGGTTTTCGAC
AAGATCCTTACACTATCGGTTATTCATTCAAGAAACCTTCTTCGAAGCGGGACGTTAGTT
GGTAAATTTAAAATCGACCTCGGTACAATATATGCCAATACTGATCATAGCTTCAGCCGC
AAGTGGGCGGTATTAACCGACCCTGACGATTTAAATACGGGACCGAAAGGTTATTTAAAG
GTTGACGTTTCAGTTGTTGGAAAAGGGGACACGATCAAAATATCGAAAGTTAACGAAGAA
GAAGAAGACGACATTGAAAACAATTTGCTTCTACCTGAAGGCGTGCAGGCGGAAAGGCAG
AGAGCAAGGTTTATCTTTAAGATATACCAAGCAGACGGGCTTCCAAAAATGAACACAAGC
ATAACAGAGAAACTGAAGACAGTACTACAAGGTGAAGCGAAGGACCTTGTCGACCCTTTT
GTGGAAATAACTTTCTGTGACCAAAAGGGCAGAACATCCGTTCGAAAAAACTCTTACGAG
CCTTGCTGGAACGAACAAATCATATTCACTGAGTTATTTCCACCCTTGTGCAAACGAATC
AAAGTTCAAATCAGGGACAAAGACAATCTGAACAACACAGTCATTGGTACAACGTATATA
AGTCTGGACAAGATTGCCAATTCTGGAGACAGAGGGTTCCTACCGACGTTCGGTCCAACT
TACGTTAACATGTACGGATCCCCACGTAACTACACCATGGTCAATGAACATTCGGACTTA
AACGAAGGACTCGGCGAAGGAGTGGCGTTCAGGTCCCGACTTCTCATGGCATTATCTGTG
GAACTGGTCAATATAAACGCATCGGAAGGGCAAGGATCATCAGATGTTGAAGTCGAATAC
ATACCAGCACTATCGGAGCTTGGAGCCGGGAAAATGGAAGAGTTTTTCCTCTTTGGCAGT
TTCCTAGAGGCAAACATGATTGACCGCACCATGGCAGATAAACCCGTCACGTTCGAGGTC
ACAATAGGCAACTACGGTAATGATATTGACGGGGCGAACCTGAGTCAGAAACGGCGACGT
AGCGACGGGAACGACAGTGATGACTCGCTGGAGGATTCGGATGACGAGAGCCAGTCATTA
CTCAAGGGGAGCATGAGTGATGACCCGAATATTCGCCCGCTTACACTGCCGGTTAAGCCG
CTTACACACGACAAGTACTACTACCACATGCCGTTCTTCGAGCAAAAGCCTTGCGTCTAC
CTTACCAGTTATTGGCACGACCACAAACGAAGGTTATATAACTCCAATATTATGCATCGA
GTCGCAGACAAACTGGACGAGGGCTTGCAAGATGTCCAAGAAATGATTAAAACGGGTCAC
GAACGACCGGATCGAAGACTGAGGGGGGTGGCTGAGGAATTAATTAACGGCTGTGCGTCT
TATACAAGACTTGTTAAAGGTACAGGCGGAATGGGAGCTGGGAGAACCCGCTTGGATCGG
GAACGAAATAAGCTGTGTCTTCGTGAAGTGGAATGGATTGGCAAAGAAGCAAAGAAAGTT
AAGACTTTCGTCAAACCAAGCACACTTAAAGAAAACATGGCGAAAATGAAATCGCTTTAT
TCAAAGTTCAAAGGCTTATGCGACGATCCACAACATTCTATACCTGATGTGTTTATCTGG
ATGCTTAGCGGCCATAAGCGCGTAGCTTACGCTAGAATTGCCGCTAGACAGATCCTGCAT
TCGGTGAGACAGGAAGAATGCGGAGAACACTGCGGAAAAATCCAAACTATCTTTTTACGG
CTGCCCGGTAAAAAGAGTCTTGGGTTAGCTGGTTGGAGCATTCAAGCAAAGATTGACATC
TACTTGTGGTTTGGCTTGGCCAAAAACAAACGCGATTTCCTGAAAGGTTTACCACAGGGA
TACACAACAACGAGAGCAGGAACTTCTATAAAGGCACCGCCCAAGTTTCTAAATTATCCA
GACCGTCTACAGTTTGAATTGCGTGCCCATATGTACCAAGCAAGAGGTTTAATCGCAGCG
GATGATACAGGGCTGTCGGATCCGTTCGCTAAAGTCATATTTTCCACACACACCGACACA
ACACAAGTGATAGACGAAACACTCAGCCCAACATGGGACCAGACACTCATTATGCCCAAC
ATTACATTGTATGGGAGGGCGGAAGAACTTCGAGACGATCCGCCGATCATCATTGTTGAG
ATATTCGACCAAGACAACGTGGGCAAAAACGAATACATAGGCCGTACTATTGCAAAGCCT
GTGGTAAAAATGAGCAGTGAGAGATACGAAGAGCCGAGGTTCCCGCCCCAGCTCGACTGG
TTTCAAGTTTACAGAGGCATGACCAAAGCTGGAGAGGTTTTAGCCGCATTTGAACTGTTG
CAGATCAAGTCCGCTGCTGACGAAGACTCGATGAAAATAACAGAATCAATACAAACTAAC
CAAGGCCACAAGTTTACAGTTCCTAAAGGAATACGTCCTTTGCTTGCGAAACACCGTGTG
GAGGTTCTTTTCTGGGGTTTGCGGGATTTAAAAAGAGTGCAGTTGATTTCAGTTGACCGC
CCGAGAGTAGACATTGAAATTGCTGGTCGCTGCGTCTCGTCTTGTCTCATAAACAACTAC
AAGAAAAATCCCAATTTCGCGGAGCCGATCAAGTTTATCGAGGACGTTGACCTGCCAGAA
GTGGAGTATTGGTGTCCACCAATCAGCATTACTTGCATTGACTGTCGAGCTTTTGGTCGG
TCAGTTCTAGTGGGAACACACATTATCAGTAATATTTCGAAGTTCGTGTTTCGTCCGCCG
GATAAGTCGAAAATTTACACAGTTTATTTCTTAGGGATAAAACGAAACGGCGAAGTTTCT
ACTGAAACCAACGACACCGTCGTTAACATCTATGATACGCCGACACCTCCTCCAAGTGGT
ATGGTGGAAATTTCTCTAGAAGCAGAATGTGAGCTAGTACATTTTTTTAAGTATGATGCA
CGTTTTTTAGAAAAAAATGTAAAGCGCCGTGGCTCAAGCAAAGACGATGACGAAGATCCG
TTGGACGAAGCTACGTTGGATTGGTGGTCCAAGTATTTTGCATCACTCGAAACTCTTAAC
GAGCAAAAACAGAAACAGGATGACGCTGGGGTTCAGGACGTTTACAATGACGAAGATGAT
GACTCTGTAGGTGCTGTTGGAGTGGTTAAGCAAGCGAAAAAAAGCTTGGGCGCACCAGTT
CGCAAATGGAAGACAAAGAAGCTACCAATCGACGAACTCAAGATCTACGACACCGAACTT
GAGAATGCGAACGAGTTTTCAGGTTTTAACGACCTTTTGAACTCGTTCGATTTATACCGA
GGAAAGCGGGAAGATCTAGCAGATGACATAACCGACCAGAAAAGAATCGTTGGCAATTTC
AAGGGGGCTTTCAAGATCTACCGACACCCACTTCCCCATTATGTGGAACAACCTGACCCA
CAGTATGGAATGTTCAAGGGCCTGCCTTCCAATGAACCGATTCATGTTCTTGTTCGTGCT
TACATCATACGCGCCACTGATCTACATCCGACAGATCCGAACGGAAAATCGGATCCTTAC
ATTGTCATATCGTTGGGCGACAACAAAATTAACGACAAGGAAAATTACATTTCGAAGCAG
TTGAACCCAACTTTTGGCAAGGCTTTTGATTTCGAGGCGACCTTCCCCATGGAGAGCATA
CTCACAGTACAAATCTACGATTGGGATCTTTTAAGCGCTGATGACTTGATCGGAGAAACA
AAAATCGACCTTGAGAATCGGTTCTACAGCAAACACAGACCACTATGCGGCGTGGCAGAG
AAATACGCGATATTCGGATACAATCAATGGCGAGATCCGATGAAACCTTCCGAGACTTTG
AAAAAACTTTGCAAAGAGTTAAAACTCGATGGCCCACACTTTATGCCCGGCAAGGTCCGT
ATCGGAAACAAAACCTTTACCGGTGCAATCGAATTAGAAGACGAAAACGGCCATAAGAAA
CCAACAGAAGAACACGTGGCGTTGGTAGCTTTAAGAAACTGGGAAGAAATATCCAAGGTT
GGCTGCAAACTGGTTCCCGAACATGTGGAGACAAGGTCTCTGTACAGTTCAGAGAAACCG
GGAATCGAACAGGGTCGTATTGAAATGTGGGTTGATATGTTCCCAATGGACATGCCACTG
CCCGGACCCCCAGTCGATGTTTCACCCAGAAAACCAAAAGGGTATGAGTTACGTGTTATT
ATTTGGAATACCGAGGATGTAATTTGCGAGGACGACGATTTTTTTACTGGCGAAAAGATG
TCTGATATATACGTTAAAGGTTGGCTGCTTGGAGATGATAAACAAGAAACTGACATTCAC
TACCGGTCCCTCACTGGGGAGGGAAATTTCAACTGGAGGTTCATTTATCCGTTCGACTAT
TTGGTGGCCGAAGAAAAGTGCGTCGTCACCAAAAAGGAATCCATGTTTTCCTGGGACGAA
ACCGAGTTCAAAATTCCTCCAAGACTTAACTTACAAGTGTGGGATGCAGATCATTTCTCT
GCTGACGATTTCTTAGGCTCACTGACGCTGGACCTCACACGCTTGGCCAGAGGTGCCAAA
TCTGCAAACAAATGCAGTCTCAACATGGCGGCAGAGGAAGACGACAACTCGAACGTTCCG
ATGATCTCCATTTTCAAGCAAAGGAGAATAAAAGGCTGGTGGCCGTTTACTGCGAAAAAT
GATCAGGATGAATTGGAAATTACAGGGAAAGTTGAGGCGGAAATTTCGTTGCTAACTGCC
GAGGAAGCGGAAAAGAATCCAGCTGGATATGGACGGGAGGAACCTGATCCTTTGGAAAAA
CCAAATCGACCCGACACGTCGTTCGTATGGTTCATGAACCCGCTTAAGTCGCTGCGTTAT
CTCATCTGCGCGAGGTTTAAGTGGCTTATAATAAAAGTTTTTATTGCCCTGTTACTGATT
GCTCTTCTTGTTCTTTTCATCTACTCTTCACCGAGCTGGATAATGAAGAAAATTGTTGGC
GCTTAAAAAACTGTATGGATACGAGTCATTTTGTATATCTTGCATTGCGTTTTATTGCAC
ATATAATGTAGTAGGGTGGGGTAATACTAATTTTTCATTCTCTTTTATCGTCCCATTGAC
TAGTAAACGAAGAATATTTATAAAATTATTACCCTTGCCCCGTGACTCTAAATGCGTTAG
TTGTTTAAATGACGATCAGAAAACTTGGGACATTATGCTAACGGTGTCCTATCTTACCCC
ACAGTACTTTACGTGTCCAAATAACTACAAAAGGCCAAACTCCAACCTTATAGTTTATTG
CACACACAGTCGACATACACTGTTCAATATTTGTACTATATATAGTTATGTTGTTCATAT
TTTACAACCTTATAATTTACGTACGACGTTACCTTATTGATTAACTTTCCCATTTTATGC
GTTCCACCGTTTCCGAATAATCGACGCCACATTTCAGCCAAACTTTGTTTTTTTTTCGGT
TTAGATTTTTATTTGTAATGAACAGTACAACTGTCTGTACTTTTATTTACTCGTGTAGAA
ACGTTATTTAATAAAAAACATATTCT
Gene3D |
C2_domain_sf (IPR035892) - T[1-124] 1.3E-29 - T[239-366] 5.9E-17 - T[391-517] 2.5E-18 - T[944-1105] 2.0E-18 - T[1446-1562] 5.3E-22 - T[1666-1830] 1.1E-18 |
SMART |
C2_dom (IPR000008) - T[2-97] 0.0054 - T[241-339] 1.4E-10 - T[403-514] 1.2E-12 - T[946-1056] 6.5E-6 - T[1457-1556] 1.8E-11 - T[1696-1824] 0.8 |
CDD |
C2A_Ferlin (IPR037726) - T[3-129] 2.2942E-53 |
Pfam |
C2_dom (IPR000008) - T[21-95] 2.0E-5 - T[241-334] 6.3E-11 - T[405-508] 1.2E-16 - T[947-1038] 2.9E-10 - T[1458-1546] 1.5E-17 - T[1776-1822] 8.4E-4 |
PANTHER |
Ferlin (IPR037721) - T[46-1960] 0.0 |
PANTHER |
Otoferlin (IPR029996) - T[46-1960] 0.0 |
CDD |
C2B_Ferlin (IPR037720) - T[238-348] 2.68523E-56 |
ProSiteProfiles |
C2_dom (IPR000008) - T[241-324] 9.598 - T[403-499] 11.877 - T[946-1037] 12.824 - T[1458-1541] 13.801 |
SMART |
FerIin_dom (IPR012968) - T[325-395] 9.3E-38 |
Pfam |
FerIin_dom (IPR012968) - T[346-395] 1.0E-18 |
CDD |
C2C_Ferlin (IPR037722) - T[403-551] 5.69911E-85 |
SMART |
Ferlin_B-domain (IPR012561) - T[830-906] 6.0E-50 |
Pfam |
Ferlin_B-domain (IPR012561) - T[830-905] 1.8E-32 |
CDD |
C2D_Ferlin (IPR037723) - T[945-1083] 1.52738E-70 |
CDD |
C2E_Ferlin (IPR037724) - T[1457-1579] 8.55513E-69 |
PRINTS |
C2_dom (IPR000008) - T[1473-1485] 1.5E-5 - T[1499-1512] 1.5E-5 - T[1521-1529] 1.5E-5 |
CDD |
C2F_Ferlin (IPR037725) - T[1696-1827] 6.63574E-76 |
Pfam |
Ferlin_C (IPR032362) - T[1868-1958] 2.7E-26 |
Protein Name | Identity | Bit Score | e-value |
---|---|---|---|
OTOF_HUMAN | 54.866 % | 2209 | 0 |
FR1L6_HUMAN | 45.668 % | 1567 | 0 |
FR1L4_HUMAN | 37.507 % | 1167 | 0 |