ENST00000542328.5 ABCB8

Information
Transcript ID
ENST00000542328.5
Genome
hg19
Position
chr7:150,725,509-150,744,869
Strand
+
CDS length
1,893
Amino acid length
631
Gene symbol
ABCB8
Gene type
protein-coding
Gene description
ATP binding cassette subfamily B member 8
Gene Entrez Gene ID
11194
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
1 150,725,509 150,725,697
2 150,731,360 150,731,515
3 150,731,592 150,731,686
4 150,731,811 150,731,916
5 150,732,668 150,732,829
6 150,732,969 150,733,054
7 150,733,160 150,733,257
8 150,733,631 150,733,736
9 150,737,355 150,737,388
10 150,737,585 150,737,721
11 150,737,915 150,738,009
12 150,738,186 150,738,319
13 150,739,048 150,739,195
14 150,741,058 150,741,308
15 150,742,296 150,744,869
CDS
Exon number Type Start Stop
1 CDS 150,725,554 150,725,697
2 CDS 150,731,360 150,731,515
3 CDS 150,731,592 150,731,686
4 CDS 150,731,811 150,731,916
5 CDS 150,732,668 150,732,829
6 CDS 150,732,969 150,733,054
7 CDS 150,733,160 150,733,257
8 CDS 150,733,631 150,733,736
9 CDS 150,737,355 150,737,388
10 CDS 150,737,585 150,737,721
11 CDS 150,737,915 150,738,009
12 CDS 150,738,186 150,738,319
13 CDS 150,739,048 150,739,195
14 CDS 150,741,058 150,741,308
15 CDS 150,742,296 150,742,436
Other genome
Genome Chromosome Start End Links
hg38 chr7 151,028,422 151,047,782 Link
CDS sequence
ATGAGGGTGAAACTGCTATTGCCGGCGGCTCCTGTTTTACCGCGTCAGCATGCTGGTGCATTTATTTCGGGTCGGGATTCGGGGTGGCCCATTCCCAGGCAGGCTGCTACCGCCCCTCCGCTTCCAGACATTCTCAGCTGTCAGCTGGCCTTGGGTGCGGCACTCGTGAATGTACAGATCCCCCTGCTCCTGGGCCAGCTGGTAGAGGTCGTGGCCAAGTACACAAGGGACCACGTAGGGAGTTTCATGACTGAGTCCCAGAATCTCAGCACCCACCTGCTTATCCTCTATGGTGTCCAGGGACTGCTGACCTTCGGGTACCTGGTGCTGCTGTCCCACGTTGGCGAGCGCATGGCTGTGGACATGCGGAGGGCCCTCTTCAGCTCCCTGCTCCGACAAGACATCACCTTCTTTGACGCCAATAAGACAGGGCAGCTGGTGAGCCGCTTGACAACTGACGTGCAGGAGTTTAAGTCATCCTTCAAGCTTGTCATCTCCCAGGGGCTGCGAAGCTGCACCCAGGTGGCAGGCTGCCTGGTGTCCCTGTCCATGCTGTCGACACGCCTCACGCTGCTGCTGATGGTGGCCACACCAGCCCTGATGGGAGTGGGCACCCTGATGGGCTCAGGCCTCCGAAAATTGTCTCGCCAGTGTCAGGAGCAGATCGCCAGGGCAATGGGCGTAGCAGACGAGGCCCTGGGCAATGTGCGGACTGTGCGTGCCTTCGCCATGGAGCAACGGGAAGAGGAGCGCTATGGGGCAGAGCTGGAAGCCTGCCGCTGCCGGGCAGAGGAGCTGGGCCGCGGCATCGCCTTGTTCCAAGGGCTTTCCAACATCGCCTTCAACTGCATGGTCTTGGGTACCCTATTTATTGGGGGCTCCCTTGTGGCCGGACAGCAGCTGACAGGGGGAGACCTCATGTCCTTCCTGGTGGCCTCCCAGACAGTGCAAAGGTCCATGGCCAACCTCTCTGTCCTGTTTGGGCAGGTGGTCCGGGGGCTGAGTGCAGGTGCCCGGGTCTTTGAGTACATGGCCCTGAACCCCTGCATCCCACTGTCTGGGGGCTGCTGCGTCCCCAAAGAGCAGCTGCGTGGCTCCGTTACATTTCAGAACGTCTGCTTCAGCTACCCCTGCCGCCCCGGCTTCGAGGTGCTGAAAGACTTCACCCTGACGCTGCCCCCTGGCAAGATCGTGGCCCTCGTGGGCCAGTCTGGCGGAGGAAAGACCACCGTGGCTTCCCTGCTGGAGCGCTTCTACGACCCCACGGCAGGCGTGGTGATGCTGGATGGGCGGGACCTGCGCACCCTTGACCCCTCCTGGCTCCGGGGCCAGGTTGTCGGCTTCATCAGCCAGGAGCCCGTCCTGTTTGGGACGACCATCATGGAAAACATCCGCTTTGGGAAGCTGGAAGCTTCCGATGAAGAGGTGTACACAGCCGCCCGGGAAGCGAATGCTCACGAGTTCATCACCAGCTTCCCCGAGGGCTACAACACGGTCGTCGGTGAACGGGGCACTACCCTGTCTGGGGGCCAGAAGCAGCGCCTGGCCATCGCCCGAGCCCTTATCAAGCAGCCCACGGTGCTGATACTGGATGAAGCTACCAGCGCGCTGGATGCAGAGTCCGAGCGGGTTGTACAGGAGGCCCTGGACCGGGCCAGTGCAGGCCGCACGGTGCTGGTAATTGCCCACCGGCTCAGCACTGTCCGTGGGGCCCACTGCATTGTCGTCATGGCCGATGGCCGTGTCTGGGAGGCTGGGACACATGAAGAGCTCCTGAAGAAAGGCGGGCTATACGCCGAGCTCATCCGGAGGCAGGCCCTGGATGCCCCGAGGACAGCGGCCCCACCGCCCAAAAAGCCAGAAGGCCCCAGGAGCCACCAGCACAAGTCCTGA
Amino sequence
MRVKLLLPAAPVLPRQHAGAFISGRDSGWPIPRQAATAPPLPDILSCQLALGAALVNVQIPLLLGQLVEVVAKYTRDHVGSFMTESQNLSTHLLILYGVQGLLTFGYLVLLSHVGERMAVDMRRALFSSLLRQDITFFDANKTGQLVSRLTTDVQEFKSSFKLVISQGLRSCTQVAGCLVSLSMLSTRLTLLLMVATPALMGVGTLMGSGLRKLSRQCQEQIARAMGVADEALGNVRTVRAFAMEQREEERYGAELEACRCRAEELGRGIALFQGLSNIAFNCMVLGTLFIGGSLVAGQQLTGGDLMSFLVASQTVQRSMANLSVLFGQVVRGLSAGARVFEYMALNPCIPLSGGCCVPKEQLRGSVTFQNVCFSYPCRPGFEVLKDFTLTLPPGKIVALVGQSGGGKTTVASLLERFYDPTAGVVMLDGRDLRTLDPSWLRGQVVGFISQEPVLFGTTIMENIRFGKLEASDEEVYTAAREANAHEFITSFPEGYNTVVGERGTTLSGGQKQRLAIARALIKQPTVLILDEATSALDAESERVVQEALDRASAGRTVLVIAHRLSTVRGAHCIVVMADGRVWEAGTHEELLKKGGLYAELIRRQALDAPRTAAPPPKKPEGPRSHQHKS*