ENST00000331493.7 EFCAB13

Information
Transcript ID
ENST00000331493.7
Genome
hg38
Position
chr17:47,323,955-47,441,312
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
Category :
Search word :
Filtering :
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 47,323,955 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 47,347,808 47,347,951
10 47,361,378 47,361,521
11 47,370,437 47,370,508
12 47,374,472 47,374,966
13 47,377,766 47,377,903
14 47,379,182 47,379,253
15 47,391,437 47,391,580
16 47,394,025 47,394,099
17 47,395,834 47,395,977
18 47,402,132 47,402,203
19 47,403,878 47,404,021
20 47,404,562 47,404,633
21 47,409,647 47,409,691
22 47,412,773 47,412,916
23 47,414,848 47,414,919
24 47,429,818 47,429,961
25 47,440,431 47,441,312
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 47,347,808 47,347,951
10 CDS 47,361,378 47,361,521
11 CDS 47,370,437 47,370,508
12 CDS 47,374,472 47,374,966
13 CDS 47,377,766 47,377,903
14 CDS 47,379,182 47,379,253
15 CDS 47,391,437 47,391,580
16 CDS 47,394,025 47,394,099
17 CDS 47,395,834 47,395,977
18 CDS 47,402,132 47,402,203
19 CDS 47,403,878 47,404,021
20 CDS 47,404,562 47,404,633
21 CDS 47,409,647 47,409,691
22 CDS 47,412,773 47,412,916
23 CDS 47,414,848 47,414,919
24 CDS 47,429,818 47,429,961
25 CDS 47,440,431 47,440,714
Other genome
Genome Chromosome Start End Links
hg19 chr17 45,401,321 45,518,678 Link
CDS sequence
ATGGAAACTAAAGTACATTTATTCTGCCAGGCAGAGGAAAATATTGACTTATTAGATGATGGCTCTAATTCTTTTGCAACTGACTTGTCATCAGGAACTATTAACCACAAGAAATACATCAAGTTTTCTAAAACAATAGAGAAGGAAATTTCACCGGAAATTAGGAGTTTGAGCCCAGAATATAAAAAAATATTTGAAACATCAATAATCTTTTGTGGAGAAGAAAAGTCCTCTGATTTTTCAGGAGAAAAAAAAGTTGGGAGAAAGAGTTTACAAGTACAACAGCACAGTAAAAGAACTGAGATTATCCCTCCTTTTCTGAAGCTGTCAAAGGAGAAGGTGACAAGGAAAGAAAACTCTTTATGCAAGTTGCCGAATCAGTACAGCGTTCACAAGACTTCATCACCTCTTTGTACATCTTCTGCAATTACTCGGGAAAAGGAAATGCTGTCTAACCTCTACATGACATTATATGATGAAGTAACCCATGGATATTTACACTCAAAAGAATTAAGTGCACTTCATAAAGCCTGTAAAATTTTTAGTAAAATTCGAAGTGGTAAGATTTATGTGAATGATCTTCCAGTGATCCTTTGCATCTTGAGAATTTCTATAAGTGATTTAGAAATGCGACAGGCACTAAAGACTGTTGATATTGATGCATTCCAGGATGCCTTGAAGATTTTCTGTAGGATAAAAGGTGGTCGAGTTTCAACTGATGACGTGTTTGCTGTTTTGGATAGCATGGGTATCCCTATAAACCGTGAAATTTTAGAAGAAGTGACAAAACATACCTATATTGACAGTAACCACATGGTGGATATTGGGGATATTATATTTACTTTGAATGAGCTACAGGAACAGTATGAGGATGTTTCAATTACAGAAGGATCACCTTTGAATGAAATTACTTCAGACAGAAAGTTATCAAGTGTAGCAGGATGCTATCTAAAATATAAGAAGAAAAATAGTTTGTCTTCCAAACTCCCTGAACCTTCAATATCCAAAAAGTTAAATAAAAAAAGCAACCAATATTATAGCAAAATTATGGAGAATGATGACCTTGAATCTAAAAGACCAAAAAATACTTGGCAAATAAGAAAATTTCTGGGTGGGGTTGGCAGCAGTAATGTAGGAGTCCAAGAACCATATTCAAAGAATGGCATAAACTTTAAAAAACATTCAGAGAAGGGTGAAATTCATGACTCAAAGTCTAAACCACAAAGCTTGAAGAGTAGTACAAGCCTCAGTAAGTCTCTGGATAAAAGTGATATTTCTAGTATCCCAAAACTTCAGAAGCCAGCTGTAAGAAAGCATTCCAGTCTCCAAAAACAGGTTTCGTCTACGGAAAAAACTGCAATTAGTACTCTGGAAAACTTCTGTGAAGCTATCAGTAAACTTCAAGAAAATTACATTGCAGCAGAAGAACTTCAGTCTATTTTGCCTTCAACAGGAATTAATTTATTAGATGAAGAATTCCAGAAGATTGTGACAGACACTAGTAGAAATGAGAATGGAATGGTGGAGTTAGATGACTTTGTAAATGCTCTCGCCAAGGAGCGAAGTTTTCCTGAATGCAATGCGTTGCCTGGTGTCATTAAAGCCATTGATAAAATTAAAGATAAAAATGTGGATTATGAGGATCTAAATACTTGTCTTCAAAATTTTGGTATTTACCTTTCTAAGCCAGAATTTAAGAAGATCACAGAACTGACTGAAGCTGGTGAAACAAAAAAAGTGAATTTTAAAGAATTCATTGATACTATGATGAGCAACACGGAATGCTTCTCTGAAAAATTAGTATTGCCTGATGCTATTGAAACCCTCGACGATCTCAGAAAGGAGACGATGAGTGTTTCTGACCTGTGGAATACTCTGTCTAGTTTGAATAGTAATTTAAAAAAGGATGAATTTCTAGCTGCATTGGAACTAGTGACAGTTGATGAAGGTGACAAAGTACAATTTGAAGAATTTGCAAAAGTAGTAAGGAATATGCGTGATGCTGCCAGGTTAGAAGAGTTACAGGAAGTTGTCTTAGCTGCTGATTTGCTGGAAGGTGACATGATAGCTGGGAAGAACTTGGAAGACTTTCTAAGAAATGTTGGGATTAAGTCACCTAAAGAAGAGGTAGAGAAAATTCTTCAATCAGATTTTGTTTCTGAAGATAACATGGTGAACATTAAAGACTGTATGAGGGCTTTGAGGGACACCCAGAAATTTTCCAATTATATTGATTTCAGGAAAGAGGCTTCAAATCTAAAATTACCAAAGGTAAACGAGATTAAAGAAGCTGCTAACATCTTGTCACATGTCGATAATGGCAAGATTGGTATACCTGATTTGGAGCATGCCTTGAAATGTTTGAATGTTAATTTAACTGAGGAGGACTTCAATGAAGCCCTTAACTGTTGTAACGTCAGTGATAATATGGAGGTGGATTTAAAAGATTTCTTAATGAAAATGAAAGAAAGTCCACATTTCCAAAAGTCCAAGGCTACACAGATACTCTTAGCTACTACCCAAATTCTCCAGAATGATCTAGTTGATGTCTCTGACCTCAAGACATTATTGATGGACAAGGACCTTCATACAGCTAATGCTATACTTACTGTAATGTTAAGACATGTACCTGAACATGAAAGTGGCAAGGTTAGCATTCAAGAATTTATGACTAAATTATCCGATATATTGACAATTCCTAAAGCTGCAGGTAAGTTTTATTTAATATGTACTTATTGCCCAGATCTAGAAAGGCAAGCAGTGGTTTACATGTTAAAAACAATACAGGATTCGATAGTTAAAGCACAGGTAAGTAAGAAGCAATACAATATGAATATAAAACAACACAAGATTAGTTTACATAACTTCTGTTTGAATTCTAAGGCAAATATTGCTAAGCTTAACCCAAACTCAAAATTTTAG
Amino sequence
METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEEKSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEMLSNLYMTLYDEVTHGYLHSKELSALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDSNHMVDIGDIIFTLNELQEQYEDVSITEGSPLNEITSDRKLSSVAGCYLKYKKKNSLSSKLPEPSISKKLNKKSNQYYSKIMENDDLESKRPKNTWQIRKFLGGVGSSNVGVQEPYSKNGINFKKHSEKGEIHDSKSKPQSLKSSTSLSKSLDKSDISSIPKLQKPAVRKHSSLQKQVSSTEKTAISTLENFCEAISKLQENYIAAEELQSILPSTGINLLDEEFQKIVTDTSRNENGMVELDDFVNALAKERSFPECNALPGVIKAIDKIKDKNVDYEDLNTCLQNFGIYLSKPEFKKITELTEAGETKKVNFKEFIDTMMSNTECFSEKLVLPDAIETLDDLRKETMSVSDLWNTLSSLNSNLKKDEFLAALELVTVDEGDKVQFEEFAKVVRNMRDAARLEELQEVVLAADLLEGDMIAGKNLEDFLRNVGIKSPKEEVEKILQSDFVSEDNMVNIKDCMRALRDTQKFSNYIDFRKEASNLKLPKVNEIKEAANILSHVDNGKIGIPDLEHALKCLNVNLTEEDFNEALNCCNVSDNMEVDLKDFLMKMKESPHFQKSKATQILLATTQILQNDLVDVSDLKTLLMDKDLHTANAILTVMLRHVPEHESGKVSIQEFMTKLSDILTIPKAAGKFYLICTYCPDLERQAVVYMLKTIQDSIVKAQVSKKQYNMNIKQHKISLHNFCLNSKANIAKLNPNSKF*