Gene information

Basic information

Official Symbol	NECAB3
Description	N-terminal EF-hand calcium binding protein 3
Other Aliases	RP1-63M2.1, APBA2BP, EFCBP3, NIP1, STIP3, SYTIP2, XB51, dJ63M2.4, dJ63M2.5
Other Description	EF-hand calcium binding protein 3; N-terminal EF-hand calcium-binding protein 3; Nek2-interacting protein 1; X11L-binding protein 51; amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein; amyloid beta A4 protein-binding family A member 2-binding protein; neuronal calcium-binding protein 3; neuronal calcium-binding protein NECAB3; synaptotagmin interacting protein 2; synaptotagmin interacting protein STIP3
Mutation type	Insert and frame-shift 272-273:V-P^T
Location	Scaffold000115_1:877461 856782 - ± bp flank
Wiki	Wikipedia GeneCard

Sequence

NECAB3

CAGGTTTTCCGCAGAGCAGACAAGAATGATGATGGTAAACTCTCGTTCGA
GGAATTCCAGAATTACTTTGCCGACGGGGTTCTCAGCCCAGGGGAGCTGC
AGGAACTGTTCAGAGGCATTGACGGGCACTCCACTGACAACTTAGAGACA
GAGAAACTGTGCGACTACTTCTCAGAACACCTGGGTGTCTTCCGGCCTGT
GCTGGCTGCGCTGGAGTCGCTGAATCGCGCAGTGCTCACTGCCATGGATG
CCACCAAGCTGGGGTATGAACAGGCCTCCAAGGTGGACCAGTTTGTGACC
CGCTTCCTGCTACGGGAGACGGTGAGCCAGCTGCAAGCCCTACAGAGCTC
TCTGGAGGGGGCATCAGATGCCCTGGAGGCCCAGGCCCGCGGCGCACGGT
CAGATGAAGAGAGTGCGGAAATACAGAGCAGGCCCCGTGGCAGCCGGCGG
GCAGGGCGCAGGGCCCTGAGGACTGTCAGTAGGTCACCCAGCTGGTCGCC
TGGCTCCACTGACACAGGGCAGAGCTCAGAGGCTGAGAAGCAGTGGCGGC
TTCAGGTCAACCGCCTCCAGGAGCTCATCGACCAGCTTGAGTGCAAGGTG
AGCAGCTATGTGGCCAGGGCCCCCGAGGGGACTTCCTGGCATCCACCAAG
TCAGGCACGCTGGGGGCCTGGCCCACACTCTGTGCCCTCACAGGCCCCCC
GGCTGGAACCCCTGCATGAAGAGGATGTTGCCAAGGGGCCTGACTCGCAC
ATCCTCGTGGCCCAGAGGCAGGTCCAGGTGGCAGAGGAAGCCTTGCAGGA
CTTTCACCGGGCCCTGTGCTGCTATGTGGACTTCACAGGGGCCCAGACCA
ATTGTCTGCATGTGTCTGCCCGGAGGATGCTGGACAACACCTCATTCACC
TTGTATGAATTCTGGCAGGACGAGGCCTCCTGGAGGAGGCACCAGCAGTC
GTCCTGCAGTAAGGCCTTCCAGCGCATCCTCATCGACCACCTGCGGGCCC
CGGACACCCTCACCACTGTGTTCTTCCCAGCCTCCTGGTGGATTATGAAT
AATAAC

Alignment

Align specie	Pep length	Pep align begin	Pep align end	Mutaion type and postion
Human	396	43	396	Insert and frame-shift 272-273:V-P^T

 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
 AspValPheArgArgAlaAspLysAsn{A}  >>>> Target Intron 1 >>>>  {
    ||||||||||||||||||||||||{|}           1492 bp           {
 GlnValPheArgArgAlaAspLysAsn{A}++                         ++{
 CAGGTTTTCCGCAGAGCAGACAAGAAT{G}gt                         ag{

 sp}AspGlyLysLeuSerPheGluGluPheGlnAsnTyrPheAlaAspGlyValLeuSer
 ||}|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 sp}AspGlyLysLeuSerPheGluGluPheGlnAsnTyrPheAlaAspGlyValLeuSer
 AT}GATGGTAAACTCTCGTTCGAGGAATTCCAGAATTACTTTGCCGACGGGGTTCTCAGC

 LeuGlyGluLeuGlnGluLeuPheSerGlyIleAspGlyHisLeuThr{As}  >>>> T
    |||||||||||||||||||||   |||||||||||||||   |||{||}        
 ProGlyGluLeuGlnGluLeuPheArgGlyIleAspGlyHisSerThr{As}++      
 CCAGGGGAGCTGCAGGAACTGTTCAGAGGCATTGACGGGCACTCCACT{GA}gt      

 arget Intron 2 >>>>  {p}AsnLeuGluThrGluLysLeuCys{A}  >>>> Ta
     978 bp           {|}||||||||||||||||||||||||{|}         
                    ++{p}AsnLeuGluThrGluLysLeuCys{A}++       
                    ag{C}AACTTAGAGACAGAGAAACTGTGC{G}gt       

 rget Intron 3 >>>>  {sp}TyrPheSerGluHisLeuGlyValTyrArgProVal
    168 bp           {||}||||||||||||||||||||||||   |||||||||
                   ++{sp}TyrPheSerGluHisLeuGlyValPheArgProVal
                   ag{AC}TACTTCTCAGAACACCTGGGTGTCTTCCGGCCTGTG

 LeuAlaAlaLeuGluSerLeuAsnArgAlaValLeuAlaAlaMetAspAlaThrLysLeu
 ||||||||||||||||||||||||||||||||||||   |||||||||||||||||||||
 LeuAlaAlaLeuGluSerLeuAsnArgAlaValLeuThrAlaMetAspAlaThrLysLeu
 CTGGCTGCGCTGGAGTCGCTGAATCGCGCAGTGCTCACTGCCATGGATGCCACCAAGCTG

   >>>> Target Intron 4 >>>>  GluTyrGluArgAlaSerLysValAspGlnP
            15476 bp             ||||||   |||||||||||||||||||
 ++                         ++GlyTyrGluGlnAlaSerLysValAspGlnP
 gt                         agGGGTATGAACAGGCCTCCAAGGTGGACCAGT

 heValThrArgPheLeuLeuArgGluThrValSerGlnLeuGlnAlaLeuGlnSerSerL
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 heValThrArgPheLeuLeuArgGluThrValSerGlnLeuGlnAlaLeuGlnSerSerL
 TTGTGACCCGCTTCCTGCTACGGGAGACGGTGAGCCAGCTGCAAGCCCTACAGAGCTCTC

 euGluGlyAlaSerAspThrLeuGluAlaGlnAlaHisGlyTrp{Ar}  >>>> Targe
 |||||||||||||||||   |||||||||||||||   |||   {||}            
 euGluGlyAlaSerAspAlaLeuGluAlaGlnAlaArgGlyAla{Ar}++          
 TGGAGGGGGCATCAGATGCCCTGGAGGCCCAGGCCCGCGGCGCA{CG}gt          

 t Intron 5 >>>>  {g}SerAspAlaGluSerValGluAlaGlnSerArgLeuCysG
 246 bp           {|}||||||   ||||||   |||   |||||||||      |
                ++{g}SerAspGluGluSerAlaGluIleGlnSerArgProArgG
                ag{G}TCAGATGAAGAGAGTGCGGAAATACAGAGCAGGCCCCGTG

 lySerArgArgAlaGlyArgArgAlaLeuArgSerValSerArgSerSerThrTrpSerP
 ||||||||||||||||||||||||||||||||   ||||||||||||      |||||||
 lySerArgArgAlaGlyArgArgAlaLeuArgThrValSerArgSerProSerTrpSerP
 GCAGCCGGCGGGCAGGGCGCAGGGCCCTGAGGACTGTCAGTAGGTCACCCAGCTGGTCGC

 roGlySerSerAspThr{G}  >>>> Target Intron 6 >>>>  {ly}ArgSerS
 ||||||||   ||||||{|}            146 bp           {||}   ||||
 roGlySerThrAspThr{G}++                         ++{ly}GlnSerS
 CTGGCTCCACTGACACA{G}gt                         ag{GG}CAGAGCT

 erGluAlaGluMetGlnTrpArgLeuGlnValAsnArgLeuGlnGluLeuIleAspGlnL
 |||||||||||   ||||||||||||||||||||||||||||||||||||||||||||||
 erGluAlaGluLysGlnTrpArgLeuGlnValAsnArgLeuGlnGluLeuIleAspGlnL
 CAGAGGCTGAGAAGCAGTGGCGGCTTCAGGTCAACCGCCTCCAGGAGCTCATCGACCAGC

 euGluCysLysValArgAlaValGlyProGlyProHisLysGlyGlyProSerTrpTyrP
 ||||||||||||||                              |||   ||||||   |
 euGluCysLysValSerSerTyrValAlaArgAlaProGlu---GlyThrSerTrpHisP
 TTGAGTGCAAGGTGAGCAGCTATGTGGCCAGGGCCCCCGAG---GGGACTTCCTGGCATC

 roProGluProGlyProCysTrpArgProGlyProHisSerVal-ProSerGlnAlaPro
 |||||               |||   ||||||||||||||||||#|||||||||||||||
 roProSerGlnAlaArg---TrpGlyProGlyProHisSerVal#ProSerGlnAlaPro
 CACCAAGTCAGGCACGC---TGGGGGCCTGGCCCACACTCTGTGTCCCTCACAGGCCCCC

 ArgLeuGluProLeuArgGluGluAspLeuAlaLysGlyProAspLeu  >>>> Targe
 |||||||||||||||   |||||||||   |||||||||||||||               
 ArgLeuGluProLeuHisGluGluAspValAlaLysGlyProAspSer++          
 CGGCTGGAACCCCTGCATGAAGAGGATGTTGCCAAGGGGCCTGACTCGgt          

 t Intron 7 >>>>  HisIleLeuMetAlaGlnArgGlnValGlnValAlaGluGluG
 470 bp           |||||||||   |||||||||||||||||||||||||||||| 
                ++HisIleLeuValAlaGlnArgGlnValGlnValAlaGluGluA
                agCACATCCTCGTGGCCCAGAGGCAGGTCCAGGTGGCAGAGGAAG

 lyLeuGlnAspPheHisArgAlaLeuArgCysTyrValAspPheThrGlyAlaGlnSerH
   ||||||||||||||||||||||||   |||||||||||||||||||||||||||    
 laLeuGlnAspPheHisArgAlaLeuCysCysTyrValAspPheThrGlyAlaGlnThrA
 CCTTGCAGGACTTTCACCGGGCCCTGTGCTGCTATGTGGACTTCACAGGGGCCCAGACCA

 isCysLeu{Hi}  >>>> Target Intron 8 >>>>  {s}ValSerAlaGlnLysM
   ||||||{||}            165 bp           {|}|||||||||      |
 snCysLeu{Hi}++                         ++{s}ValSerAlaArgArgM
 ATTGTCTG{CA}gt                         ag{T}GTGTCTGCCCGGAGGA

 etLeuAspGlyAlaSerPheThrLeuTyrGluPheTrpGlnAspGluAlaSerTrpArg{
 ||||||||      |||||||||||||||||||||||||||||||||||||||||||||{
 etLeuAspAsnThrSerPheThrLeuTyrGluPheTrpGlnAspGluAlaSerTrpArg{
 TGCTGGACAACACCTCATTCACCTTGTATGAATTCTGGCAGGACGAGGCCTCCTGGAGG{

 Ar}  >>>> Target Intron 9 >>>>  {g}HisGlnGlnSerProGlySerLysA
 ||}            389 bp           {|}||||||||||||      |||||||
 Ar}++                         ++{g}HisGlnGlnSerSerCysSerLysA
 AG}gt                         ag{G}CACCAGCAGTCGTCCTGCAGTAAGG

 laPheGlnArgIleLeuIleAspHisLeuArgAlaProAspThrLeuThrThrValPheP
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 laPheGlnArgIleLeuIleAspHisLeuArgAlaProAspThrLeuThrThrValPheP
 CCTTCCAGCGCATCCTCATCGACCACCTGCGGGCCCCGGACACCCTCACCACTGTGTTCT

 hePro{A}  >>>> Target Intron 10 >>>>  {la}SerTrpTrpIleMetAsn
 |||||{|}             93 bp            {||}||||||||||||||||||
 hePro{A}++                          ++{la}SerTrpTrpIleMetAsn
 TCCCA{G}gt                          ag{CC}TCCTGGTGGATTATGAAT

 AsnAsn
 ||||||
 AsnAsn
 AATAAC


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