ENST00000315765.10 HEPHL1

Information
Transcript ID
ENST00000315765.10
Genome
hg19
Position
chr11:93,754,520-93,847,374
Strand
+
CDS length
3,480
Amino acid length
1,160
Gene symbol
HEPHL1
Gene type
protein-coding
Gene description
hephaestin like 1
Gene Entrez Gene ID
341208
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 93,754,520 93,754,704
2 93,778,839 93,779,083
3 93,796,674 93,796,886
4 93,797,497 93,797,676
5 93,800,662 93,800,916
6 93,803,540 93,803,708
7 93,806,191 93,806,330
8 93,806,474 93,806,605
9 93,808,340 93,808,551
10 93,815,584 93,815,734
11 93,819,143 93,819,355
12 93,821,921 93,822,134
13 93,826,667 93,826,806
14 93,834,361 93,834,501
15 93,836,080 93,836,186
16 93,837,694 93,837,916
17 93,839,157 93,839,296
18 93,844,069 93,844,231
19 93,844,703 93,844,771
20 93,844,858 93,847,374
CDS
Exon number Type Start Stop
1 CDS 93,754,535 93,754,704
2 CDS 93,778,839 93,779,083
3 CDS 93,796,674 93,796,886
4 CDS 93,797,497 93,797,676
5 CDS 93,800,662 93,800,916
6 CDS 93,803,540 93,803,708
7 CDS 93,806,191 93,806,330
8 CDS 93,806,474 93,806,605
9 CDS 93,808,340 93,808,551
10 CDS 93,815,584 93,815,734
11 CDS 93,819,143 93,819,355
12 CDS 93,821,921 93,822,134
13 CDS 93,826,667 93,826,806
14 CDS 93,834,361 93,834,501
15 CDS 93,836,080 93,836,186
16 CDS 93,837,694 93,837,916
17 CDS 93,839,157 93,839,296
18 CDS 93,844,069 93,844,231
19 CDS 93,844,703 93,844,771
20 CDS 93,844,858 93,845,060
Other genome
Genome Chromosome Start End Links
hg38 chr11 94,021,354 94,114,208 Link
CDS sequence
ATGCCTCGGAAGCAGCCAGCTGGCTGCATCTTTCTCCTCACATTCCTGGGTCTGTCTGGGCTGGTTGGCACAGTTACCAGAACGTACTACATTGGGATTGTGGAAGAATACTGGAACTATGTACCCCAAGGGAAGAATGTTATTACTGGGAAAAGTTTCACAGAAGACAAACTTGCAACCTTATTTCTCGAAAGAGGGCCCAACAGGATAGGCAGTATTTACAAAAAGGCTGTTTACAGACGCTTCACGGATGGAACCTACTCCATAGAGATCCCCAAACCTCCCTGGCTTGGATTCCTGGGCCCCATCTTGAGGGCCGAAGTGGGTGATGTGATTGTCATTCATTTAAAGAACTTTGCTTCTCGACCTTACTCTCTGCATCCACATGGCGTTTTCTACAACAAAGATTCAGAAGGAGCCCTATACCCAGATGGAACATCTGGAAGGAACAAAAATGATGACATGGTTCCTCCTGGGAAAAACTACACCTACGTCTGGCCGGTGAGAGAAGAATATGCACCTACTCCAGCCGATGCCAACTGCCTGACCTGGGTGTACCATTCGCACATCGACGCCCCAAAGGACATCTGCTCTGGGCTAATTGGGCCCCTGCTGGTCTGCAAGGAAGGTATCCTGAATAGATATTCAGGGACACGGAATGATGTGGATCGAGAGTTTGTTATAATGTTTACTCTTGTGGATGAGAATCAAAGCTGGTACCTCAATGAAAATATCAAACATTTCTGCACCAACCCTGATTCAGTTGACAAGAAAGATGCTGTTTTCCAGAGGAGTAACAAAATGCATGCCCTCAATGGATACCTCTTCGGAAACTTCCCGGAGCCTGATATGTGTGTTGGAGAATCTGTGTCCTGGCACCTATTTGGAATGGGGAATGAAATAGACATCCATTCTATCTATTTCTATGGTAACACCTTCATCAGCAGAGGGCATCGGACTGATGTCGTCAACCTGTTCCCAGCCACCTTCCTTACAACAGAAATGATAGCCGAGAATCCTGGGAAGTGGATGATAACCTGCCAGGTCAGCGACCACCTACAAGCTGGTATGCTGGGGCAATACAATGTTGATAACTGCAAAAGTGATATTTTCTACCCCAAGATGAAGGGTCAACAGAGGCGCTACTTTATAGCAGCTGAAAAAATTCTTTGGGATTATGCTCCTCAAGGCTATAACAAATTCAGTGGTCTTCCTCTAAACGCCTCTGGCAGTGACTCTGATCTCTACTTCACACAAGGGGACAACAGAATAGGAGGAAAATACTGGAAGGTTCGGTATACTGAATTTGTTGATGCAACTTTTACTAAAAGAAAGAGACTCTCTGCTGAAGAAGCCCATCTTGGAATTCTTGGCCCAGTCATCAAGGCAGAGGTGGGTGATACCCTGTTAGTGACCTTTGCCAACAAAGCCGACAAGGTCTATAGCATTTTACCCCATGGTGTGATCTATGACAAGGCATCTGATGCAGCCCCAAACCTAGATGGATTTGTGAAACCAGGGGCGCATGTTAAACCAGGTGAAACCTTCACATACAAGTGGACAGTGCCTGAGAGCGTAAGCCCAACTGCTGGTGATCCTCCCTGTCTGACCTATCTTTACTTCTCAGCAGTTGATCCAATTAAGGACACCAGCTCTGGCCTGGTAGGGCCTTTGCTAGTCTGTAAAAAGGGCGTCCTCAATGCTGATGGGACACAGAAAGGAATAGACAAGGAGTTTTACCTACTGTTCACAGTCTTTGATGAGAATCTGAGCAGATATTTTGATGAAAACATTCAGAAGTTTATCTGGCATCCCTTCAGCATTGACAAAGAAGATAAAGAGTTTGTGAAATCCAACCGAATGCATGCTGTTAACGGCTACATGTATGGCAACCAGCCAGGCTTAAACATGTGTAAAAGGGATAGAGTTTCCTGGCATCTGATTGGATTGGGCACTGACACTGACATGCATGGAATTGTTTTTCAAGGGAACACCATCCACCTACGAGGGACTCACCGAGACTCCCTGGCCCTGTTTCCCCACATGGCCACAACAGCATTCATGCAGCCAGACCATGCAGGTATTTTTAGGGTGTTTTGTGCCACCATGCCCCACCTCTCGAGAGGCATGGGTCAGATCTATGAGGTCAGCAGCTGTGACAACAGGGACCCTTCTGAGCAGCGGTACGGGATGATAAGAACTTTTTACATCGCCGCTGAAGAAGTAGAATGGGATTATGCCCCTAACAAAAACTGGGAGTTCGAAAAGCAGCACGTGGACGCAAGAGGGGAAAGACATGGAGATATATTTATGAACCGCACTGAAAATTGGATTGGCTCTCAGTACAAGAAGGTGGTTTACAGGGAATATACGGATGGAGAATTTGTGGAGATCAAAGCCCGACCACCACGAGAGGAGCACTTAGAACTCCTGGGCCCAATGATTCATGCTGAGGTGGGCAACACCGTCCTGATCATATTTAAGAACAAAGCCAGTAGGCCCTACTCCATCTCAGCCCAGGGTGTGGAGGAGATGGATAGTGGAAAGCAATTCCAAGTGCCCATGACAAAACCAGGAGAAGTAAAAACTTATAGATGGAATATCCCTAAAAGATCCGGTCCAGGGCCTTCTGATCCCAATTGTATTCCATGGGTTTACTATTCAACAGTAAACTTTGTGAAGGATACGTATAGTGGTTTGATGGGTCCTCTGATTACATGCCGAAAAGGAGTCTTGAATGAAAAGGGAAGAAGAAGTGACGTTGATTATGAATTTGCTCTCTTGTTTTTGGTATTTAATGAGAATGAATCCTGGTATCTGGATGACAATATTAAGAAGTATCTCAACAAAGATCCACGAGATTTTAAGCGCACTGATGATTTTGAGGAAAGCAACAGAATGCATGCCATTAATGGAAAGATTTTTGGGAATCTCCATGGCCTCATAATGAACGAAGATACAATGACAAACTGGTATTTGTTAGGGATAGGAAGTGAAGTGGACATACATACCATCCATTATCATGCTGAGAGCTTTCTTTTCAAAATAGATAAATCTTACCGAGAAGATGTGTATGATCTCTTTCCTGGGACATTCCAAACCATTGAACTGTTTGCAGATCACCCAGGGACATGGCTGCTACACTGTCATGTGTCTGACCACATCCATGCTGGCATGGAGACAACCTACACGGTCCTTCGTAACATAGACAACAGGATTCCTTACTCCACCACATCTCCTGGAGTGGCATCTCACCCAGCCACGGTGCCATCTAACGAACGACCTGGCAAAGAGCAGCTCTATTTCTTTGGCAAGAATCTGGGTCCAACAGGAGCCAAGGCAGCCTTGGTCATCCTTTTCATCATTGGACTCCTCCTTCTAATCACCACGGTGATTCTCTCCCTCAGACTCTGCTCTGCAATGAAGCAGACAGATTACCAGCAAGTCCAGTCCTGTGCTCTCCCCACGGATGCTCTGTGA
Amino sequence
MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLATLFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFASRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWYLNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNEIDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQGDNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPESVSPTAGDPPCLTYLYFSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQKFIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIVFQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCDNRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGSQYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQGVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGLMGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDDFEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSPGVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSAMKQTDYQQVQSCALPTDAL*