ENST00000331493.7 EFCAB13

Information
Transcript ID
ENST00000331493.7
Genome
hg19
Position
chr17:45,401,321-45,518,678
Strand
+
CDS length
2,922
Amino acid length
974
Gene symbol
EFCAB13
Gene type
protein-coding
Gene description
EF-hand calcium binding domain 13
Gene Entrez Gene ID
124989
Variants

Display target variant


Search Word
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 :
Search word :
Filtering :
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 :
Search word :
Filtering :
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 45,401,321 45,401,440
2 45,401,820 45,401,889
3 45,403,592 45,403,753
4 45,405,635 45,405,749
5 45,412,562 45,412,722
6 45,419,287 45,419,398
7 45,421,528 45,421,658
8 45,422,382 45,422,464
9 45,425,174 45,425,317
10 45,438,744 45,438,887
11 45,447,803 45,447,874
12 45,451,838 45,452,332
13 45,455,132 45,455,269
14 45,456,548 45,456,619
15 45,468,803 45,468,946
16 45,471,391 45,471,465
17 45,473,200 45,473,343
18 45,479,498 45,479,569
19 45,481,244 45,481,387
20 45,481,928 45,481,999
21 45,487,013 45,487,057
22 45,490,139 45,490,282
23 45,492,214 45,492,285
24 45,507,184 45,507,327
25 45,517,797 45,518,678
CDS
Exon number Type Start Stop
4 CDS 45,405,720 45,405,749
5 CDS 45,412,562 45,412,722
6 CDS 45,419,287 45,419,398
7 CDS 45,421,528 45,421,658
8 CDS 45,422,382 45,422,464
9 CDS 45,425,174 45,425,317
10 CDS 45,438,744 45,438,887
11 CDS 45,447,803 45,447,874
12 CDS 45,451,838 45,452,332
13 CDS 45,455,132 45,455,269
14 CDS 45,456,548 45,456,619
15 CDS 45,468,803 45,468,946
16 CDS 45,471,391 45,471,465
17 CDS 45,473,200 45,473,343
18 CDS 45,479,498 45,479,569
19 CDS 45,481,244 45,481,387
20 CDS 45,481,928 45,481,999
21 CDS 45,487,013 45,487,057
22 CDS 45,490,139 45,490,282
23 CDS 45,492,214 45,492,285
24 CDS 45,507,184 45,507,327
25 CDS 45,517,797 45,518,080
Other genome
Genome Chromosome Start End Links
hg38 chr17 47,323,955 47,441,312 Link
CDS sequence
ATGGAAACTAAAGTACATTTATTCTGCCAGGCAGAGGAAAATATTGACTTATTAGATGATGGCTCTAATTCTTTTGCAACTGACTTGTCATCAGGAACTATTAACCACAAGAAATACATCAAGTTTTCTAAAACAATAGAGAAGGAAATTTCACCGGAAATTAGGAGTTTGAGCCCAGAATATAAAAAAATATTTGAAACATCAATAATCTTTTGTGGAGAAGAAAAGTCCTCTGATTTTTCAGGAGAAAAAAAAGTTGGGAGAAAGAGTTTACAAGTACAACAGCACAGTAAAAGAACTGAGATTATCCCTCCTTTTCTGAAGCTGTCAAAGGAGAAGGTGACAAGGAAAGAAAACTCTTTATGCAAGTTGCCGAATCAGTACAGCGTTCACAAGACTTCATCACCTCTTTGTACATCTTCTGCAATTACTCGGGAAAAGGAAATGCTGTCTAACCTCTACATGACATTATATGATGAAGTAACCCATGGATATTTACACTCAAAAGAATTAAGTGCACTTCATAAAGCCTGTAAAATTTTTAGTAAAATTCGAAGTGGTAAGATTTATGTGAATGATCTTCCAGTGATCCTTTGCATCTTGAGAATTTCTATAAGTGATTTAGAAATGCGACAGGCACTAAAGACTGTTGATATTGATGCATTCCAGGATGCCTTGAAGATTTTCTGTAGGATAAAAGGTGGTCGAGTTTCAACTGATGACGTGTTTGCTGTTTTGGATAGCATGGGTATCCCTATAAACCGTGAAATTTTAGAAGAAGTGACAAAACATACCTATATTGACAGTAACCACATGGTGGATATTGGGGATATTATATTTACTTTGAATGAGCTACAGGAACAGTATGAGGATGTTTCAATTACAGAAGGATCACCTTTGAATGAAATTACTTCAGACAGAAAGTTATCAAGTGTAGCAGGATGCTATCTAAAATATAAGAAGAAAAATAGTTTGTCTTCCAAACTCCCTGAACCTTCAATATCCAAAAAGTTAAATAAAAAAAGCAACCAATATTATAGCAAAATTATGGAGAATGATGACCTTGAATCTAAAAGACCAAAAAATACTTGGCAAATAAGAAAATTTCTGGGTGGGGTTGGCAGCAGTAATGTAGGAGTCCAAGAACCATATTCAAAGAATGGCATAAACTTTAAAAAACATTCAGAGAAGGGTGAAATTCATGACTCAAAGTCTAAACCACAAAGCTTGAAGAGTAGTACAAGCCTCAGTAAGTCTCTGGATAAAAGTGATATTTCTAGTATCCCAAAACTTCAGAAGCCAGCTGTAAGAAAGCATTCCAGTCTCCAAAAACAGGTTTCGTCTACGGAAAAAACTGCAATTAGTACTCTGGAAAACTTCTGTGAAGCTATCAGTAAACTTCAAGAAAATTACATTGCAGCAGAAGAACTTCAGTCTATTTTGCCTTCAACAGGAATTAATTTATTAGATGAAGAATTCCAGAAGATTGTGACAGACACTAGTAGAAATGAGAATGGAATGGTGGAGTTAGATGACTTTGTAAATGCTCTCGCCAAGGAGCGAAGTTTTCCTGAATGCAATGCGTTGCCTGGTGTCATTAAAGCCATTGATAAAATTAAAGATAAAAATGTGGATTATGAGGATCTAAATACTTGTCTTCAAAATTTTGGTATTTACCTTTCTAAGCCAGAATTTAAGAAGATCACAGAACTGACTGAAGCTGGTGAAACAAAAAAAGTGAATTTTAAAGAATTCATTGATACTATGATGAGCAACACGGAATGCTTCTCTGAAAAATTAGTATTGCCTGATGCTATTGAAACCCTCGACGATCTCAGAAAGGAGACGATGAGTGTTTCTGACCTGTGGAATACTCTGTCTAGTTTGAATAGTAATTTAAAAAAGGATGAATTTCTAGCTGCATTGGAACTAGTGACAGTTGATGAAGGTGACAAAGTACAATTTGAAGAATTTGCAAAAGTAGTAAGGAATATGCGTGATGCTGCCAGGTTAGAAGAGTTACAGGAAGTTGTCTTAGCTGCTGATTTGCTGGAAGGTGACATGATAGCTGGGAAGAACTTGGAAGACTTTCTAAGAAATGTTGGGATTAAGTCACCTAAAGAAGAGGTAGAGAAAATTCTTCAATCAGATTTTGTTTCTGAAGATAACATGGTGAACATTAAAGACTGTATGAGGGCTTTGAGGGACACCCAGAAATTTTCCAATTATATTGATTTCAGGAAAGAGGCTTCAAATCTAAAATTACCAAAGGTAAACGAGATTAAAGAAGCTGCTAACATCTTGTCACATGTCGATAATGGCAAGATTGGTATACCTGATTTGGAGCATGCCTTGAAATGTTTGAATGTTAATTTAACTGAGGAGGACTTCAATGAAGCCCTTAACTGTTGTAACGTCAGTGATAATATGGAGGTGGATTTAAAAGATTTCTTAATGAAAATGAAAGAAAGTCCACATTTCCAAAAGTCCAAGGCTACACAGATACTCTTAGCTACTACCCAAATTCTCCAGAATGATCTAGTTGATGTCTCTGACCTCAAGACATTATTGATGGACAAGGACCTTCATACAGCTAATGCTATACTTACTGTAATGTTAAGACATGTACCTGAACATGAAAGTGGCAAGGTTAGCATTCAAGAATTTATGACTAAATTATCCGATATATTGACAATTCCTAAAGCTGCAGGTAAGTTTTATTTAATATGTACTTATTGCCCAGATCTAGAAAGGCAAGCAGTGGTTTACATGTTAAAAACAATACAGGATTCGATAGTTAAAGCACAGGTAAGTAAGAAGCAATACAATATGAATATAAAACAACACAAGATTAGTTTACATAACTTCTGTTTGAATTCTAAGGCAAATATTGCTAAGCTTAACCCAAACTCAAAATTTTAG
Amino sequence
METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDSNHMVDIGDIIFTLNELQEQYEDVSITEGSPLNEITSDRKLSSVAGCYLKYKKKNSLSSKLPEPSISKKLNKKSNQYYSKIMENDDLESKRPKNTWQIRKFLGGVGSSNVGVQEPYSKNGINFKKHSEKGEIHDSKSKPQSLKSSTSLSKSLDKSDISSIPKLQKPAVRKHSSLQKQVSSTEKTAISTLENFCEAISKLQENYIAAEELQSILPSTGINLLDEEFQKIVTDTSRNENGMVELDDFVNALAKERSFPECNALPGVIKAIDKIKDKNVDYEDLNTCLQNFGIYLSKPEFKKITELTEAGETKKVNFKEFIDTMMSNTECFSEKLVLPDAIETLDDLRKETMSVSDLWNTLSSLNSNLKKDEFLAALELVTVDEGDKVQFEEFAKVVRNMRDAARLEELQEVVLAADLLEGDMIAGKNLEDFLRNVGIKSPKEEVEKILQSDFVSEDNMVNIKDCMRALRDTQKFSNYIDFRKEASNLKLPKVNEIKEAANILSHVDNGKIGIPDLEHALKCLNVNLTEEDFNEALNCCNVSDNMEVDLKDFLMKMKESPHFQKSKATQILLATTQILQNDLVDVSDLKTLLMDKDLHTANAILTVMLRHVPEHESGKVSIQEFMTKLSDILTIPKAAGKFYLICTYCPDLERQAVVYMLKTIQDSIVKAQVSKKQYNMNIKQHKISLHNFCLNSKANIAKLNPNSKF*