ENST00000531848.1 HPS5

Information
Transcript ID
ENST00000531848.1
Genome
hg19
Position
chr11:18,317,709-18,343,745
Strand
-
CDS length
1,203
Amino acid length
401
Gene symbol
HPS5
Gene type
protein-coding
Gene description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene Entrez Gene ID
11234
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
11 18,317,709 18,318,531
10 18,319,106 18,319,264
9 18,320,339 18,320,517
8 18,322,375 18,322,463
7 18,326,969 18,327,040
6 18,327,682 18,327,894
5 18,330,493 18,330,626
4 18,332,288 18,332,480
3 18,332,934 18,332,998
2 18,333,461 18,333,571
1 18,343,624 18,343,745
CDS
Exon number Type Start Stop
11 CDS 18,318,310 18,318,531
10 CDS 18,319,106 18,319,264
9 CDS 18,320,339 18,320,517
8 CDS 18,322,375 18,322,463
7 CDS 18,326,969 18,327,040
6 CDS 18,327,682 18,327,894
5 CDS 18,330,493 18,330,626
4 CDS 18,332,288 18,332,422
Other genome
Genome Chromosome Start End Links
hg38 chr11 18,296,162 18,322,198 Link
CDS sequence
ATGTATGTGTCTTCAGAACACAAAGGCCGAAGAGTCACAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTAGGTGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAGGCAGCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACTGTTGACTCCTGTGTTGTACAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCACTTACTCGATCCTTCTTGTGTGACACTGAGAGAGAAAAGTTTTGGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGAGCTTGTTTCTTTCCTGGAAGATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGCCCAGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTTCAAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTCAGATCAGAACCTCAGTATGATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCCAAACTCTTACATCTTAGTGAGCATTGTGTGCTGACTTGGACAGAAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAAGTTCTTCTTTGGAGTGAAGTCAAAGATATTCAGGATGTGGCTGTCTGTAGGAATGAATTGTTCTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTGTGTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCTCGTACATGCTGTCTTTTCCAAAATTCTGTCATTGCCAGCAGAGCAAGAAAAACTTTGACTGCAGATAAATTGGAGCATTTGAAATCTCAGCTGGACCATGGCACCTACAATGATCTAATTTCTCAACTGGAAGAATTGATCTTAAAATTTGAACCTTTGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCACATGAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGGCAGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCAGATCAGTGTTGTGGCTCACACGGAAATGAAGGTGATGAATGTGTCTGTTGTTGGTTCCTGATGTGA
Amino sequence
MYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEGDECVCCWFLM*