ENST00000517484.5 EFCAB13

Information
Transcript ID
ENST00000517484.5
Genome
hg38
Position
chr17:47,324,025-47,430,710
Strand
+
CDS length
2,355
Amino acid length
785
Gene symbol
EFCAB13
Gene type
protein-coding
Gene description
EF-hand calcium binding domain 13
Gene Entrez Gene ID
124989
Variants

Display target variant


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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 47,324,025 47,324,074
2 47,324,454 47,324,523
3 47,326,226 47,326,387
4 47,328,269 47,328,383
5 47,335,196 47,335,356
6 47,341,921 47,342,032
7 47,344,162 47,344,292
8 47,345,016 47,345,098
9 47,370,437 47,370,508
10 47,374,472 47,374,966
11 47,377,766 47,377,903
12 47,379,182 47,379,253
13 47,391,437 47,391,580
14 47,394,025 47,394,099
15 47,395,834 47,395,977
16 47,402,132 47,402,203
17 47,403,878 47,404,021
18 47,404,562 47,404,633
19 47,409,647 47,409,691
20 47,412,773 47,412,916
21 47,414,848 47,414,919
22 47,429,818 47,430,710
CDS
Exon number Type Start Stop
4 CDS 47,328,354 47,328,383
5 CDS 47,335,196 47,335,356
6 CDS 47,341,921 47,342,032
7 CDS 47,344,162 47,344,292
8 CDS 47,345,016 47,345,098
9 CDS 47,370,437 47,370,508
10 CDS 47,374,472 47,374,966
11 CDS 47,377,766 47,377,903
12 CDS 47,379,182 47,379,253
13 CDS 47,391,437 47,391,580
14 CDS 47,394,025 47,394,099
15 CDS 47,395,834 47,395,977
16 CDS 47,402,132 47,402,203
17 CDS 47,403,878 47,404,021
18 CDS 47,404,562 47,404,633
19 CDS 47,409,647 47,409,691
20 CDS 47,412,773 47,412,916
21 CDS 47,414,848 47,414,919
22 CDS 47,429,818 47,429,966
Other genome
Genome Chromosome Start End Links
hg19 chr17 45,401,391 45,508,076 Link
CDS sequence
ATGGAAACTAAAGTACATTTATTCTGCCAGGCAGAGGAAAATATTGACTTATTAGATGATGGCTCTAATTCTTTTGCAACTGACTTGTCATCAGGAACTATTAACCACAAGAAATACATCAAGTTTTCTAAAACAATAGAGAAGGAAATTTCACCGGAAATTAGGAGTTTGAGCCCAGAATATAAAAAAATATTTGAAACATCAATAATCTTTTGTGGAGAAGAAAAGTCCTCTGATTTTTCAGGAGAAAAAAAAGTTGGGAGAAAGAGTTTACAAGTACAACAGCACAGTAAAAGAACTGAGATTATCCCTCCTTTTCTGAAGCTGTCAAAGGAGAAGGTGACAAGGAAAGAAAACTCTTTATGCAAGTTGCCGAATCAGTACAGCGTTCACAAGACTTCATCACCTCTTTGTACATCTTCTGCAATTACTCGGGAAAAGGAAATGCTGTCTAACCTCTACATGACATTATATGATGAAGTAACCCATGGATATTTACACTCAAAAGAATTAAGTGGTAACCACATGGTGGATATTGGGGATATTATATTTACTTTGAATGAGCTACAGGAACAGTATGAGGATGTTTCAATTACAGAAGGATCACCTTTGAATGAAATTACTTCAGACAGAAAGTTATCAAGTGTAGCAGGATGCTATCTAAAATATAAGAAGAAAAATAGTTTGTCTTCCAAACTCCCTGAACCTTCAATATCCAAAAAGTTAAATAAAAAAAGCAACCAATATTATAGCAAAATTATGGAGAATGATGACCTTGAATCTAAAAGACCAAAAAATACTTGGCAAATAAGAAAATTTCTGGGTGGGGTTGGCAGCAGTAATGTAGGAGTCCAAGAACCATATTCAAAGAATGGCATAAACTTTAAAAAACATTCAGAGAAGGGTGAAATTCATGACTCAAAGTCTAAACCACAAAGCTTGAAGAGTAGTACAAGCCTCAGTAAGTCTCTGGATAAAAGTGATATTTCTAGTATCCCAAAACTTCAGAAGCCAGCTGTAAGAAAGCATTCCAGTCTCCAAAAACAGGTTTCGTCTACGGAAAAAACTGCAATTAGTACTCTGGAAAACTTCTGTGAAGCTATCAGTAAACTTCAAGAAAATTACATTGCAGCAGAAGAACTTCAGTCTATTTTGCCTTCAACAGGAATTAATTTATTAGATGAAGAATTCCAGAAGATTGTGACAGACACTAGTAGAAATGAGAATGGAATGGTGGAGTTAGATGACTTTGTAAATGCTCTCGCCAAGGAGCGAAGTTTTCCTGAATGCAATGCGTTGCCTGGTGTCATTAAAGCCATTGATAAAATTAAAGATAAAAATGTGGATTATGAGGATCTAAATACTTGTCTTCAAAATTTTGGTATTTACCTTTCTAAGCCAGAATTTAAGAAGATCACAGAACTGACTGAAGCTGGTGAAACAAAAAAAGTGAATTTTAAAGAATTCATTGATACTATGATGAGCAACACGGAATGCTTCTCTGAAAAATTAGTATTGCCTGATGCTATTGAAACCCTCGACGATCTCAGAAAGGAGACGATGAGTGTTTCTGACCTGTGGAATACTCTGTCTAGTTTGAATAGTAATTTAAAAAAGGATGAATTTCTAGCTGCATTGGAACTAGTGACAGTTGATGAAGGTGACAAAGTACAATTTGAAGAATTTGCAAAAGTAGTAAGGAATATGCGTGATGCTGCCAGGTTAGAAGAGTTACAGGAAGTTGTCTTAGCTGCTGATTTGCTGGAAGGTGACATGATAGCTGGGAAGAACTTGGAAGACTTTCTAAGAAATGTTGGGATTAAGTCACCTAAAGAAGAGGTAGAGAAAATTCTTCAATCAGATTTTGTTTCTGAAGATAACATGGTGAACATTAAAGACTGTATGAGGGCTTTGAGGGACACCCAGAAATTTTCCAATTATATTGATTTCAGGAAAGAGGCTTCAAATCTAAAATTACCAAAGGTAAACGAGATTAAAGAAGCTGCTAACATCTTGTCACATGTCGATAATGGCAAGATTGGTATACCTGATTTGGAGCATGCCTTGAAATGTTTGAATGTTAATTTAACTGAGGAGGACTTCAATGAAGCCCTTAACTGTTGTAACGTCAGTGATAATATGGAGGTGGATTTAAAAGATTTCTTAATGAAAATGAAAGAAAGTCCACATTTCCAAAAGTCCAAGGCTACACAGATACTCTTAGCTACTACCCAAATTCTCCAGAATGATCTAGTTGATGTCTCTGACCTCAAGACATTATTGATGGACAAGGACCTTCATACAGCTAATGCTATACTTACTGTAATGTTAAGACATGTACCTGAACATGGTTAG
Amino sequence
METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSGNHMVDIGDIIFTLNELQEQYEDVSITEGSPLNEITSDRKLSSVAGCYLKYKKKNSLSSKLPEPSISKKLNKKSNQYYSKIMENDDLESKRPKNTWQIRKFLGGVGSSNVGVQEPYSKNGINFKKHSEKGEIHDSKSKPQSLKSSTSLSKSLDKSDISSIPKLQKPAVRKHSSLQKQVSSTEKTAISTLENFCEAISKLQENYIAAEELQSILPSTGINLLDEEFQKIVTDTSRNENGMVELDDFVNALAKERSFPECNALPGVIKAIDKIKDKNVDYEDLNTCLQNFGIYLSKPEFKKITELTEAGETKKVNFKEFIDTMMSNTECFSEKLVLPDAIETLDDLRKETMSVSDLWNTLSSLNSNLKKDEFLAALELVTVDEGDKVQFEEFAKVVRNMRDAARLEELQEVVLAADLLEGDMIAGKNLEDFLRNVGIKSPKEEVEKILQSDFVSEDNMVNIKDCMRALRDTQKFSNYIDFRKEASNLKLPKVNEIKEAANILSHVDNGKIGIPDLEHALKCLNVNLTEEDFNEALNCCNVSDNMEVDLKDFLMKMKESPHFQKSKATQILLATTQILQNDLVDVSDLKTLLMDKDLHTANAILTVMLRHVPEHG*