ENST00000349215.8 HPS5

Information
Transcript ID
ENST00000349215.8
Genome
hg19
Position
chr11:18,300,223-18,343,687
Strand
-
CDS length
3,390
Amino acid length
1,130
Gene symbol
HPS5
Gene type
protein-coding
Gene description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene Entrez Gene ID
11234
Variants

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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
23 18,300,223 18,301,489
22 18,303,497 18,303,767
21 18,305,342 18,305,448
20 18,306,893 18,307,006
19 18,308,138 18,308,257
18 18,309,082 18,309,237
17 18,309,440 18,309,560
16 18,312,989 18,313,566
15 18,314,446 18,314,523
14 18,316,567 18,316,716
13 18,317,546 18,317,669
12 18,318,345 18,318,531
11 18,319,106 18,319,264
10 18,320,339 18,320,517
9 18,322,375 18,322,463
8 18,326,969 18,327,040
7 18,327,682 18,327,894
6 18,330,493 18,330,626
5 18,332,288 18,332,480
4 18,332,934 18,332,998
3 18,333,461 18,333,571
2 18,339,298 18,339,454
1 18,343,493 18,343,687
CDS
Exon number Type Start Stop
23 CDS 18,301,429 18,301,489
22 CDS 18,303,497 18,303,767
21 CDS 18,305,342 18,305,448
20 CDS 18,306,893 18,307,006
19 CDS 18,308,138 18,308,257
18 CDS 18,309,082 18,309,237
17 CDS 18,309,440 18,309,560
16 CDS 18,312,989 18,313,566
15 CDS 18,314,446 18,314,523
14 CDS 18,316,567 18,316,716
13 CDS 18,317,546 18,317,669
12 CDS 18,318,345 18,318,531
11 CDS 18,319,106 18,319,264
10 CDS 18,320,339 18,320,517
9 CDS 18,322,375 18,322,463
8 CDS 18,326,969 18,327,040
7 CDS 18,327,682 18,327,894
6 CDS 18,330,493 18,330,626
5 CDS 18,332,288 18,332,480
4 CDS 18,332,934 18,332,998
3 CDS 18,333,461 18,333,571
2 CDS 18,339,298 18,339,405
Other genome
Genome Chromosome Start End Links
hg38 chr11 18,278,676 18,322,140 Link
CDS sequence
ATGGCTTTTGTGCCAGTGATACCAGAGTCCTACAGCCATGTTCTTGCAGAGTTTGAATCTCTGGATCCATTACTCTCAGCCCTGCGGCTGGACTCCAGTCGTCTAAAGTGCACGAGCATAGCTGTGTCTCGGAAATGGTTGGCTTTGGGCAGTTCAGGAGGAGGACTCCATCTCATTCAGAAAGAAGGCTGGAAGCACAGGCTTTTTCTTTCACACAGGGAAGGTGCAATTTCTCAAGTCGCCTGTTGTTTACATGATGATGATTATGTTGCTGTAGCTACCAGTCAAGGTCTTGTGGTTGTTTGGGAATTAAATCAAGAGCGTCGTGGGAAACCGGAACAAATGTATGTGTCTTCAGAACACAAAGGCCGAAGAGTCACAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTAGGTGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAGGCAGCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACTGTTGACTCCTGTGTTGTACAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCACTTACTCGATCCTTCTTGTGTGACACTGAGAGAGAAAAGTTTTGGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGAGCTTGTTTCTTTCCTGGAAGATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGCCCAGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTTCAAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTCAGATCAGAACCTCAGTATGATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCCAAACTCTTACATCTTAGTGAGCATTGTGTGCTGACTTGGACAGAAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAAGTTCTTCTTTGGAGTGAAGTCAAAGATATTCAGGATGTGGCTGTCTGTAGGAATGAATTGTTCTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTGTGTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCTCGTACATGCTGTCTTTTCCAAAATTCTGTCATTGCCAGCAGAGCAAGAAAAACTTTGACTGCAGATAAATTGGAGCATTTGAAATCTCAGCTGGACCATGGCACCTACAATGATCTAATTTCTCAACTGGAAGAATTGATCTTAAAATTTGAACCTTTGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCACATGAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGGCAGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCAGATCAGTGTTGTGGCTCACACGGAAATGAAGACAATGTTTCTCATGCTCCAGTGATGTTTGAGACAGATAAGAATGAAACTTTTCTCCCGTTCGGCATTCCATTACCATTTCGTTCTCCATCTCCTCTTGTGTCTCTTCAGGCTGTCAAAGAAAGTGTTTCTAGCTTTGTGCGTAAAACTACTGAGAAGATTGGCACCCTTCACACGAGCCCTGATCTGAAAGTGAGACCAGAGCTCAGGGGTGATGAGCAATCATGTGAAGAGGATGTGAGTTCAGATACCTGCCCAAAGGAGGAAGACACTGAGGAGGAAAAAGAGGTAACTAGTCCACCTCCAGAAGAAGACAGGTTCCAGGAGCTTAAAGTAGCAACAGCAGAAGCAATGACCAAGCTACAGGACCCTCTGGTTTTATTTGAATCCGAGTCTCTGAGAATGGTTTTACAGGAGTGGCTTTCACATTTAGAAAAAACATTTGCCATGAAGGACTTTTCAGGTGTTTCAGATACTGACAACTCATCCATGAAATTGAACCAGGATGTGCTATTAGTTAATGAATCAAAAAAGGGAATATTAGATGAAGATAATGAAAAAGAAAAAAGGGACTCTTTAGGCAATGAAGAATCTGTTGATAAAACAGCATGTGAATGTGTAAGGAGTCCAAGGGAGTCTTTGGATGACCTGTTTCAAATATGTTCTCCATGCGCCATTGCAAGTGGTCTTCGGAACGACCTGGCTGAATTGACAACATTATGTTTGGAGTTGAATGTATTGAATTCTAAGATCAAAAGCACCAGTGGACATGTGGACCACACTTTGCAACAGTACTCTCCTGAAATTCTGGCTTGCCAGTTCCTGAAGAAGTACTTTTTTCTCCTGAACTTGAAAAGAGCGAAGGAGAGTATCAAGCTTAGTTACAGTAATAGCCCTTCTGTTTGGGATACTTTTATTGAAGGATTGAAAGAAATGGCAAGTTCCAATCCTGTGTATATGGAGATGGAAAAAGGAGATCTACCAACAAGGTTAAAGTTACTAGATGACGAGGTTCCTTTTGATAGTCCGTTGTTGGTTGTTTATGCTACCCGGTTGTATGAAAAGTTTGGGGAGTCTGCTCTTCGATCCTTAATCAAGTTCTTTCCATCCATTTTGCCATCGGATATCATACAACTTTGTCATCATCATCCTGCTGAGTTTTTGGCCTATTTAGACAGTCTGGTGAAATCAAGGCCTGAAGATCAGCGGTCATCTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGGTTGGATTGGCTGCTTTTGGCAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGATGATGAAGGTTATCCCAGGCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGATCCTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAGAAAATGACAGACATCTGCAGGTCTTGTGGTTTCTGGCCTGGATATCTAATTCTCTGTTTGGAGCTGGAGAGAAGAAGAGAGGCCTTCACCAATATTGTGTATCTGAATGATATGAGCCTGATGGAAGGGGACAATGGTTGGATCCCAGAGACCGTGGAGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGCACGAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCATCAATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGCCCAGATCGGGCTTGGTCACTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAGAAGTTTACCAGAACCTGCGATATCCTGAGGATTGCTGAGAAAAGGCAGAGGGCCTTGATACAAAGCATGCTTGAAAAATGCGATCGGTTTCTCTGGTCCCAGCAGGCCTAG
Amino sequence
MAFVPVIPESYSHVLAEFESLDPLLSALRLDSSRLKCTSIAVSRKWLALGSSGGGLHLIQKEGWKHRLFLSHREGAISQVACCLHDDDYVAVATSQGLVVVWELNQERRGKPEQMYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVSHAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTLHTSPDLKVRPELRGDEQSCEEDVSSDTCPKEEDTEEEKEVTSPPPEEDRFQELKVATAEAMTKLQDPLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVLLVNESKKGILDEDNEKEKRDSLGNEESVDKTACECVRSPRESLDDLFQICSPCAIASGLRNDLAELTTLCLELNVLNSKIKSTSGHVDHTLQQYSPEILACQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDTFIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFGESALRSLIKFFPSILPSDIIQLCHHHPAEFLAYLDSLVKSRPEDQRSSFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLILHLIKLPADFITKEKMTDICRSCGFWPGYLILCLELERRREAFTNIVYLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPINVENVALLLAKAMGPDRAWSLLQECGLALELSEKFTRTCDILRIAEKRQRALIQSMLEKCDRFLWSQQA*