ENST00000495038.5 IFT56

Information
Transcript ID
ENST00000495038.5
Genome
hg38
Position
chr7:139,133,764-139,189,665
Strand
+
CDS length
1,272
Amino acid length
424
Gene symbol
IFT56
Gene type
protein-coding
Gene description
intraflagellar transport 56
Gene Entrez Gene ID
79989
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
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Target data :
MGeND data only
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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
1 139,133,764 139,133,860
2 139,134,655 139,134,792
3 139,137,847 139,137,939
4 139,139,890 139,140,004
5 139,142,256 139,142,305
6 139,165,132 139,165,234
7 139,166,840 139,166,895
8 139,168,344 139,168,397
9 139,169,289 139,169,352
10 139,178,214 139,178,302
11 139,178,515 139,178,598
12 139,179,574 139,179,643
13 139,181,092 139,181,198
14 139,187,406 139,187,539
15 139,189,321 139,189,665
CDS
Exon number Type Start Stop
1 CDS 139,133,858 139,133,860
2 CDS 139,134,655 139,134,792
3 CDS 139,137,847 139,137,939
4 CDS 139,139,890 139,140,004
5 CDS 139,142,256 139,142,305
6 CDS 139,165,132 139,165,234
7 CDS 139,166,840 139,166,895
8 CDS 139,168,344 139,168,397
9 CDS 139,169,289 139,169,352
10 CDS 139,178,214 139,178,302
11 CDS 139,178,515 139,178,598
12 CDS 139,179,574 139,179,643
13 CDS 139,181,092 139,181,198
14 CDS 139,187,406 139,187,539
15 CDS 139,189,321 139,189,432
Other genome
Genome Chromosome Start End Links
hg19 chr7 138,818,510 138,874,411 Link
CDS sequence
ATGATGCTTTCAAGGGCCAAACCTGCTGTAGGCAGAGGCGTACAGCACACTGACAAAAGAAAGAAGAAAGGTAGGAAGATTCCAAAACTAGAGGAGCTACTTTCAAAAAGAGATTTCACTGGAGCTATTACCCTGTTGGAGTTCAAACGTCATGTTGGGGAAGAAGAAGAGGATACTAATTTGTGGATTGGATATTGTGCCTTTCACCTGGGTGACTACAAGAGAGCTCTGGAGGAATACGAAAATGCTACAAAAGAGGAAAATTGTAATTCTGAAGTCTGGGTGAACCTAGCTTGCACCTACTTCTTTCTTGGGATGTATAAACAAGCTGAAGCAGCTGGATTTAAAGCTTCAAAAAGCCGACTCCAAAACCGCCTCCTCTTCCACTTGGCTCACAAGGTTGTTTTCCGAGGAGGTGAAGGGGCTTTGCAGGTTTTACCTCCCCTAGTTGATGTCATTCCTGAAGCTAGGCTAAACTTGGTGATTTACTACCTTCGTCAAGATGATGTACAAGAAGCTTATAACTTAATTAAGGATCTGGAACCTACTACTCCTCAGGAGTATATTCTCAAAGGAGTGGTCAATGCAGCCCTTGGCCAGGAAATGGGTTCAAGGGATCATATGAAAATTGCCCAGCAGTTCTTCCAGTTGGTGGGAGGATCAGCTAGTGAATGTGATACAATACCAGGGAGGCAGTGCATGGCTTCCTGTTTCTTCCTGCTTAAGCAATTTGATGATGTTTTGATTTACCTCAACTCATTTAAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGCGTTCCTCTTGATCCAAAGTGAGAAGATGAAAAATGATTACATTTACCTCAGCTGGTTAGCTCGGTGCTATATTATGAATAAGAAACCAAGACTAGCCTGGGAACTTTATCTTAAGATGGAAACCTCCGGCGAGTCCTTCAGTCTCTTACAGCTCATTGCTAATGACTGCTACAAGATGGGCCAGTTTTACTATTCTGCCAAAGCTTTTGATGTCCTTGAGAGGCTGGATCCTAACCCTGAATATTGGGAAGGCAAACGGGGTGCCTGTGTGGGCATTTTCCAGATGATCATAGCTGGGAGAGAACCCAAAGAGACCCTTCGAGAAGTGCTCCATTTACTGAGAAGCACAGGTAACACCCAAGTAGAATACATGATCCGGATCATGAAGAAATGGGCCAAAGAAAACAGAGTGTCCATCTAA
Amino sequence
MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI*