ENST00000315765.10 HEPHL1

Information
Transcript ID
ENST00000315765.10
Genome
hg38
Position
chr11:94,021,354-94,114,208
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


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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 :
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 :
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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 94,021,354 94,021,538
2 94,045,673 94,045,917
3 94,063,508 94,063,720
4 94,064,331 94,064,510
5 94,067,496 94,067,750
6 94,070,374 94,070,542
7 94,073,025 94,073,164
8 94,073,308 94,073,439
9 94,075,174 94,075,385
10 94,082,418 94,082,568
11 94,085,977 94,086,189
12 94,088,755 94,088,968
13 94,093,501 94,093,640
14 94,101,195 94,101,335
15 94,102,914 94,103,020
16 94,104,528 94,104,750
17 94,105,991 94,106,130
18 94,110,903 94,111,065
19 94,111,537 94,111,605
20 94,111,692 94,114,208
CDS
Exon number Type Start Stop
1 CDS 94,021,369 94,021,538
2 CDS 94,045,673 94,045,917
3 CDS 94,063,508 94,063,720
4 CDS 94,064,331 94,064,510
5 CDS 94,067,496 94,067,750
6 CDS 94,070,374 94,070,542
7 CDS 94,073,025 94,073,164
8 CDS 94,073,308 94,073,439
9 CDS 94,075,174 94,075,385
10 CDS 94,082,418 94,082,568
11 CDS 94,085,977 94,086,189
12 CDS 94,088,755 94,088,968
13 CDS 94,093,501 94,093,640
14 CDS 94,101,195 94,101,335
15 CDS 94,102,914 94,103,020
16 CDS 94,104,528 94,104,750
17 CDS 94,105,991 94,106,130
18 CDS 94,110,903 94,111,065
19 CDS 94,111,537 94,111,605
20 CDS 94,111,692 94,111,894
Other genome
Genome Chromosome Start End Links
hg19 chr11 93,754,520 93,847,374 Link
CDS sequence
ATGCCTCGGAAGCAGCCAGCTGGCTGCATCTTTCTCCTCACATTCCTGGGTCTGTCTGGGCTGGTTGGCACAGTTACCAGAACGTACTACATTGGGATTGTGGAAGAATACTGGAACTATGTACCCCAAGGGAAGAATGTTATTACTGGGAAAAGTTTCACAGAAGACAAACTTGCAACCTTATTTCTCGAAAGAGGGCCCAACAGGATAGGCAGTATTTACAAAAAGGCTGTTTACAGACGCTTCACGGATGGAACCTACTCCATAGAGATCCCCAAACCTCCCTGGCTTGGATTCCTGGGCCCCATCTTGAGGGCCGAAGTGGGTGATGTGATTGTCATTCATTTAAAGAACTTTGCTTCTCGACCTTACTCTCTGCATCCACATGGCGTTTTCTACAACAAAGATTCAGAAGGAGCCCTATACCCAGATGGAACATCTGGAAGGAACAAAAATGATGACATGGTTCCTCCTGGGAAAAACTACACCTACGTCTGGCCGGTGAGAGAAGAATATGCACCTACTCCAGCCGATGCCAACTGCCTGACCTGGGTGTACCATTCGCACATCGACGCCCCAAAGGACATCTGCTCTGGGCTAATTGGGCCCCTGCTGGTCTGCAAGGAAGGTATCCTGAATAGATATTCAGGGACACGGAATGATGTGGATCGAGAGTTTGTTATAATGTTTACTCTTGTGGATGAGAATCAAAGCTGGTACCTCAATGAAAATATCAAACATTTCTGCACCAACCCTGATTCAGTTGACAAGAAAGATGCTGTTTTCCAGAGGAGTAACAAAATGCATGCCCTCAATGGATACCTCTTCGGAAACTTCCCGGAGCCTGATATGTGTGTTGGAGAATCTGTGTCCTGGCACCTATTTGGAATGGGGAATGAAATAGACATCCATTCTATCTATTTCTATGGTAACACCTTCATCAGCAGAGGGCATCGGACTGATGTCGTCAACCTGTTCCCAGCCACCTTCCTTACAACAGAAATGATAGCCGAGAATCCTGGGAAGTGGATGATAACCTGCCAGGTCAGCGACCACCTACAAGCTGGTATGCTGGGGCAATACAATGTTGATAACTGCAAAAGTGATATTTTCTACCCCAAGATGAAGGGTCAACAGAGGCGCTACTTTATAGCAGCTGAAAAAATTCTTTGGGATTATGCTCCTCAAGGCTATAACAAATTCAGTGGTCTTCCTCTAAACGCCTCTGGCAGTGACTCTGATCTCTACTTCACACAAGGGGACAACAGAATAGGAGGAAAATACTGGAAGGTTCGGTATACTGAATTTGTTGATGCAACTTTTACTAAAAGAAAGAGACTCTCTGCTGAAGAAGCCCATCTTGGAATTCTTGGCCCAGTCATCAAGGCAGAGGTGGGTGATACCCTGTTAGTGACCTTTGCCAACAAAGCCGACAAGGTCTATAGCATTTTACCCCATGGTGTGATCTATGACAAGGCATCTGATGCAGCCCCAAACCTAGATGGATTTGTGAAACCAGGGGCGCATGTTAAACCAGGTGAAACCTTCACATACAAGTGGACAGTGCCTGAGAGCGTAAGCCCAACTGCTGGTGATCCTCCCTGTCTGACCTATCTTTACTTCTCAGCAGTTGATCCAATTAAGGACACCAGCTCTGGCCTGGTAGGGCCTTTGCTAGTCTGTAAAAAGGGCGTCCTCAATGCTGATGGGACACAGAAAGGAATAGACAAGGAGTTTTACCTACTGTTCACAGTCTTTGATGAGAATCTGAGCAGATATTTTGATGAAAACATTCAGAAGTTTATCTGGCATCCCTTCAGCATTGACAAAGAAGATAAAGAGTTTGTGAAATCCAACCGAATGCATGCTGTTAACGGCTACATGTATGGCAACCAGCCAGGCTTAAACATGTGTAAAAGGGATAGAGTTTCCTGGCATCTGATTGGATTGGGCACTGACACTGACATGCATGGAATTGTTTTTCAAGGGAACACCATCCACCTACGAGGGACTCACCGAGACTCCCTGGCCCTGTTTCCCCACATGGCCACAACAGCATTCATGCAGCCAGACCATGCAGGTATTTTTAGGGTGTTTTGTGCCACCATGCCCCACCTCTCGAGAGGCATGGGTCAGATCTATGAGGTCAGCAGCTGTGACAACAGGGACCCTTCTGAGCAGCGGTACGGGATGATAAGAACTTTTTACATCGCCGCTGAAGAAGTAGAATGGGATTATGCCCCTAACAAAAACTGGGAGTTCGAAAAGCAGCACGTGGACGCAAGAGGGGAAAGACATGGAGATATATTTATGAACCGCACTGAAAATTGGATTGGCTCTCAGTACAAGAAGGTGGTTTACAGGGAATATACGGATGGAGAATTTGTGGAGATCAAAGCCCGACCACCACGAGAGGAGCACTTAGAACTCCTGGGCCCAATGATTCATGCTGAGGTGGGCAACACCGTCCTGATCATATTTAAGAACAAAGCCAGTAGGCCCTACTCCATCTCAGCCCAGGGTGTGGAGGAGATGGATAGTGGAAAGCAATTCCAAGTGCCCATGACAAAACCAGGAGAAGTAAAAACTTATAGATGGAATATCCCTAAAAGATCCGGTCCAGGGCCTTCTGATCCCAATTGTATTCCATGGGTTTACTATTCAACAGTAAACTTTGTGAAGGATACGTATAGTGGTTTGATGGGTCCTCTGATTACATGCCGAAAAGGAGTCTTGAATGAAAAGGGAAGAAGAAGTGACGTTGATTATGAATTTGCTCTCTTGTTTTTGGTATTTAATGAGAATGAATCCTGGTATCTGGATGACAATATTAAGAAGTATCTCAACAAAGATCCACGAGATTTTAAGCGCACTGATGATTTTGAGGAAAGCAACAGAATGCATGCCATTAATGGAAAGATTTTTGGGAATCTCCATGGCCTCATAATGAACGAAGATACAATGACAAACTGGTATTTGTTAGGGATAGGAAGTGAAGTGGACATACATACCATCCATTATCATGCTGAGAGCTTTCTTTTCAAAATAGATAAATCTTACCGAGAAGATGTGTATGATCTCTTTCCTGGGACATTCCAAACCATTGAACTGTTTGCAGATCACCCAGGGACATGGCTGCTACACTGTCATGTGTCTGACCACATCCATGCTGGCATGGAGACAACCTACACGGTCCTTCGTAACATAGACAACAGGATTCCTTACTCCACCACATCTCCTGGAGTGGCATCTCACCCAGCCACGGTGCCATCTAACGAACGACCTGGCAAAGAGCAGCTCTATTTCTTTGGCAAGAATCTGGGTCCAACAGGAGCCAAGGCAGCCTTGGTCATCCTTTTCATCATTGGACTCCTCCTTCTAATCACCACGGTGATTCTCTCCCTCAGACTCTGCTCTGCAATGAAGCAGACAGATTACCAGCAAGTCCAGTCCTGTGCTCTCCCCACGGATGCTCTGTGA
Amino sequence
MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLATLFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILRAEVGDVIVIHLKNFASRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGILNRYSGTRNDVDREFVIMFTLVDENQSWYLNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNEIDIHSIYFYGNTFISRGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQGDNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPESVSPTAGDPPCLTYLYFSAVDPIKDTSSGLVGPLLVCKKGVLNADGTQKGIDKEFYLLFTVFDENLSRYFDENIQKFIWHPFSIDKEDKEFVKSNRMHAVNGYMYGNQPGLNMCKRDRVSWHLIGLGTDTDMHGIVFQGNTIHLRGTHRDSLALFPHMATTAFMQPDHAGIFRVFCATMPHLSRGMGQIYEVSSCDNRDPSEQRYGMIRTFYIAAEEVEWDYAPNKNWEFEKQHVDARGERHGDIFMNRTENWIGSQYKKVVYREYTDGEFVEIKARPPREEHLELLGPMIHAEVGNTVLIIFKNKASRPYSISAQGVEEMDSGKQFQVPMTKPGEVKTYRWNIPKRSGPGPSDPNCIPWVYYSTVNFVKDTYSGLMGPLITCRKGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKRTDDFEESNRMHAINGKIFGNLHGLIMNEDTMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTTSPGVASHPATVPSNERPGKEQLYFFGKNLGPTGAKAALVILFIIGLLLLITTVILSLRLCSAMKQTDYQQVQSCALPTDAL*