ENST00000420616.6 PEX5

Information
Transcript ID
ENST00000420616.6
Genome
hg19
Position
chr12:7,342,311-7,362,858
Strand
+
CDS length
1,920
Amino acid length
640
Gene symbol
PEX5
Gene type
protein-coding
Gene description
peroxisomal biogenesis factor 5
Gene Entrez Gene ID
5830
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
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Target data :
MGeND data only
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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
1 7,342,311 7,342,812
2 7,342,958 7,343,120
3 7,343,484 7,343,519
4 7,343,822 7,343,954
5 7,344,165 7,344,296
6 7,351,607 7,351,709
7 7,354,347 7,354,437
8 7,354,837 7,354,947
9 7,355,208 7,355,300
10 7,356,028 7,356,147
11 7,360,255 7,360,398
12 7,360,606 7,360,676
13 7,361,053 7,361,265
14 7,361,601 7,361,766
15 7,362,279 7,362,436
16 7,362,618 7,362,858
CDS
Exon number Type Start Stop
2 CDS 7,342,974 7,343,120
3 CDS 7,343,484 7,343,519
4 CDS 7,343,822 7,343,954
5 CDS 7,344,165 7,344,296
6 CDS 7,351,607 7,351,709
7 CDS 7,354,347 7,354,437
8 CDS 7,354,837 7,354,947
9 CDS 7,355,208 7,355,300
10 CDS 7,356,028 7,356,147
11 CDS 7,360,255 7,360,398
12 CDS 7,360,606 7,360,676
13 CDS 7,361,053 7,361,265
14 CDS 7,361,601 7,361,766
15 CDS 7,362,279 7,362,436
16 CDS 7,362,618 7,362,819
Other genome
Genome Chromosome Start End Links
hg38 chr12 7,189,715 7,210,262 Link
CDS sequence
ATGGCAATGCGGGAGCTGGTGGAGGCCGAATGCGGGGGTGCCAACCCGCTCATGAAGCTCGCCGGGCACTTCACCCAGGACAAGGCCCTTCGGCAGGAGGGATTGAGGCCTGGCCCCTGGCCCCCCGGAGCCCCGGCCTCTGAGGCAGCCTCCAAGCCTTTGGGAGTAGCTTCTGAAGATGAGTTGGTGGCTGAATTCCTGCAGGACCAGAATGCACCCCTTGTGTCCCGTGCCCCTCAGACCTTCAAGATGGATGACCTCCTGGCTGAGATGCAGCAGATTGAGCAGTCAAACTTCCGCCAGGCTCCCCAGAGAGCCCCTGGTGTGGCAGACTTGGCCTTGTCTGAGAACTGGGCCCAGGAGTTTCTTGCAGCTGGAGATGCTGTGGATGTAACTCAGGATTATAATGAGACTGACTGGTCCCAAGAATTCATCTCTGAAGTTACAGACCCCTTGTCTGTGTCCCCTGCCCGCTGGGCTGAGGAATATTTGGAGCAATCAGAGGAGAAGCTGTGGCTGGGAGAACCTGAGGGAACAGCCACCGATCGCTGGTATGATGAATATCATCCTGAGGAGGATCTGCAGCACACGGCCAGTGACTTTGTGGCCAAAGTGGATGACCCCAAATTGGCTAATTCTGAGTTCCTGAAATTCGTGCGGCAGATTGGCGAAGGGCAGGTGTCCCTGGAGTCCGGTGCAGGGTCGGGCCGAGCTCAGGCAGAACAGTGGGCAGCAGAGTTTATACAGCAGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGTCTGATGTCGATTTCTGGGACAAGTTGCAGGCAGAGTTGGAGGAGATGGCAAAACGGGATGCTGAGGCCCACCCCTGGCTTTCTGACTATGATGACCTTACGTCAGCTACCTATGATAAGGGGTACCAGTTTGAGGAGGAGAACCCCTTGCGTGATCACCCTCAGCCTTTTGAAGAAGGGCTGCGGCGCCTTCAGGAGGGGGACCTGCCAAATGCTGTGCTGCTTTTTGAGGCAGCTGTGCAGCAGGATCCTAAGCACATGGAAGCTTGGCAGTATCTGGGTACCACCCAGGCAGAGAATGAACAAGAACTATTAGCCATCAGTGCATTGCGGAGGTGTCTGGAGCTAAAGCCAGATAACCAGACAGCACTGATGGCGCTGGCTGTGAGCTTCACCAACGAGTCCCTGCAGCGACAGGCCTGTGAAACCCTACGAGACTGGCTGCGGTACACACCAGCCTATGCCCATCTGGTGACACCTGCTGAAGAAGGGGCTGGTGGGGCAGGACTGGGCCCCAGCAAGCGTATCCTGGGATCTCTCTTGTCTGACTCCCTGTTTCTTGAAGTGAAAGAGCTCTTCCTGGCAGCTGTGCGGCTGGACCCTACCTCCATTGACCCTGATGTGCAGTGTGGCTTGGGAGTCCTTTTCAACCTGAGTGGGGAGTATGACAAGGCCGTGGACTGCTTCACAGCTGCCCTCAGCGTTCGTCCCAATGACTATTTGCTGTGGAATAAGCTAGGCGCCACCCTGGCCAATGGAAACCAGAGTGAAGAAGCAGTAGCTGCGTACCGCCGGGCCCTCGAGCTCCAGCCTGGCTATATCCGGTCCCGCTATAACCTGGGCATCAGCTGCATCAACCTCGGGGCTCACCGGGAGGCTGTGGAGCACTTTCTGGAGGCCCTGAACATGCAGAGGAAAAGCCGGGGCCCCCGGGGTGAAGGAGGTGCCATGTCGGAGAACATCTGGAGCACCCTGCGTTTGGCATTGTCTATGTTAGGCCAGAGCGATGCCTATGGGGCAGCCGACGCGCGGGATCTGTCCACCCTCCTAACTATGTTTGGCCTGCCCCAGTGA
Amino sequence
MAMRELVEAECGGANPLMKLAGHFTQDKALRQEGLRPGPWPPGAPASEAASKPLGVASEDELVAEFLQDQNAPLVSRAPQTFKMDDLLAEMQQIEQSNFRQAPQRAPGVADLALSENWAQEFLAAGDAVDVTQDYNETDWSQEFISEVTDPLSVSPARWAEEYLEQSEEKLWLGEPEGTATDRWYDEYHPEEDLQHTASDFVAKVDDPKLANSEFLKFVRQIGEGQVSLESGAGSGRAQAEQWAAEFIQQQGTSDAWVDQFTRPVNTSALDMEFERAKSAIESDVDFWDKLQAELEEMAKRDAEAHPWLSDYDDLTSATYDKGYQFEEENPLRDHPQPFEEGLRRLQEGDLPNAVLLFEAAVQQDPKHMEAWQYLGTTQAENEQELLAISALRRCLELKPDNQTALMALAVSFTNESLQRQACETLRDWLRYTPAYAHLVTPAEEGAGGAGLGPSKRILGSLLSDSLFLEVKELFLAAVRLDPTSIDPDVQCGLGVLFNLSGEYDKAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYRRALELQPGYIRSRYNLGISCINLGAHREAVEHFLEALNMQRKSRGPRGEGGAMSENIWSTLRLALSMLGQSDAYGAADARDLSTLLTMFGLPQ*