ENST00000586539.6 ABCA8

Information
Transcript ID
ENST00000586539.6
Genome
hg38
Position
chr17:68,867,289-68,955,392
Strand
-
CDS length
4,866
Amino acid length
1,622
Gene symbol
ABCA8
Gene type
protein-coding
Gene description
ATP binding cassette subfamily A member 8
Gene Entrez Gene ID
10351
Variants

Display target variant


Search Word
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 :
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
40 68,867,289 68,868,183
39 68,868,301 68,868,356
38 68,869,700 68,869,779
37 68,875,260 68,875,400
36 68,875,614 68,875,733
35 68,876,460 68,876,554
34 68,876,628 68,876,703
33 68,877,519 68,877,679
32 68,881,120 68,881,211
31 68,881,863 68,881,980
30 68,882,599 68,882,719
29 68,883,791 68,883,882
28 68,884,331 68,884,396
27 68,885,196 68,885,315
26 68,887,017 68,887,130
25 68,887,336 68,887,506
24 68,891,489 68,891,596
23 68,894,173 68,894,310
22 68,894,880 68,895,013
21 68,902,713 68,902,879
20 68,903,301 68,903,499
19 68,906,044 68,906,163
18 68,907,740 68,907,879
17 68,917,361 68,917,451
16 68,918,047 68,918,185
15 68,918,427 68,918,546
14 68,919,301 68,919,476
13 68,921,382 68,921,492
12 68,922,242 68,922,300
11 68,924,701 68,924,869
10 68,927,916 68,928,063
9 68,929,049 68,929,234
8 68,929,561 68,929,702
7 68,932,288 68,932,514
6 68,933,168 68,933,271
5 68,936,951 68,937,115
4 68,940,758 68,940,962
3 68,941,939 68,942,039
2 68,949,312 68,949,472
1 68,955,219 68,955,392
CDS
Exon number Type Start Stop
40 CDS 68,868,085 68,868,183
39 CDS 68,868,301 68,868,356
38 CDS 68,869,700 68,869,779
37 CDS 68,875,260 68,875,400
36 CDS 68,875,614 68,875,733
35 CDS 68,876,460 68,876,554
34 CDS 68,876,628 68,876,703
33 CDS 68,877,519 68,877,679
32 CDS 68,881,120 68,881,211
31 CDS 68,881,863 68,881,980
30 CDS 68,882,599 68,882,719
29 CDS 68,883,791 68,883,882
28 CDS 68,884,331 68,884,396
27 CDS 68,885,196 68,885,315
26 CDS 68,887,017 68,887,130
25 CDS 68,887,336 68,887,506
24 CDS 68,891,489 68,891,596
23 CDS 68,894,173 68,894,310
22 CDS 68,894,880 68,895,013
21 CDS 68,902,713 68,902,879
20 CDS 68,903,301 68,903,499
19 CDS 68,906,044 68,906,163
18 CDS 68,907,740 68,907,879
17 CDS 68,917,361 68,917,451
16 CDS 68,918,047 68,918,185
15 CDS 68,918,427 68,918,546
14 CDS 68,919,301 68,919,476
13 CDS 68,921,382 68,921,492
12 CDS 68,922,242 68,922,300
11 CDS 68,924,701 68,924,869
10 CDS 68,927,916 68,928,063
9 CDS 68,929,049 68,929,234
8 CDS 68,929,561 68,929,702
7 CDS 68,932,288 68,932,514
6 CDS 68,933,168 68,933,271
5 CDS 68,936,951 68,937,115
4 CDS 68,940,758 68,940,962
3 CDS 68,941,939 68,942,034
Other genome
Genome Chromosome Start End Links
hg19 chr17 66,863,430 66,951,533 Link
CDS sequence
ATGAGGAAGAGAAAGATCAGTGTGTGTCAACAAACTTGGGCCTTATTATGCAAGAACTTTCTTAAAAAATGGAGAATGAAAAGAGAGTCCTTAATGGAATGGCTGAATTCATTGCTCCTACTACTTTGTTTGTATATATATCCTCATAGTCATCAAGTAAATGATTTTTCTTCACTGCTTACCATGGACCTGGGACGGGTAGATACATTTAATGAATCCAGATTTTCTGTTGTATACACACCTGTCACCAACACGACCCAACAGATAATGAATAAAGTAGCCTCTACTCCCTTCCTGGCAGGTAAAGAGGTCTTGGGACTGCCAGATGAGGAAAGTATTAAAGAATTCACAGCAAATTATCCTGAAGAAATAGTAAGAGTCACCTTTACTAATACATACTCATATCATTTGAAGTTCTTGCTAGGACATGGAATGCCAGCAAAGAAGGAGCACAAGGACCATACAGCTCATTGTTATGAAACAAATGAAGATGTTTACTGTGAAGTTTCAGTATTTTGGAAGGAAGGTTTTGTGGCTCTTCAAGCTGCCATTAATGCTGCTATTATAGAAATCACAACAAATCACTCAGTGATGGAGGAGCTGATGTCAGTTACTGGAAAAAATATGAAGATGCATTCCTTCATTGGTCAATCAGGAGTTATAACTGATTTGTACCTTTTTTCCTGCATTATTTCATTTTCCTCATTCATTTACTATGCATCTGTTAATGTCACAAGAGAGAGGAAAAGGATGAAGGCCTTGATGACAATGATGGGTCTTCGGGATTCAGCGTTCTGGCTCTCCTGGGGTTTGCTCTATGCTGGTTTCATCTTCATTATGGCCCTTTTCTTGGCACTTGTTATAAGATCTACCCAGTTTATCATTTTGTCTGGCTTCATGGTAGTCTTCAGCCTCTTTCTCCTGTATGGATTATCTTTGGTAGCTTTGGCTTTCTTAATGAGCATCTTGGTAAAGAAATCTTTCCTCACCGGCCTGGTCGTGTTCCTCCTCACTGTCTTTTGGGGGTGTCTGGGGTTCACATCACTGTACAGACACCTTCCTGCATCCTTGGAGTGGATTTTAAGCTTGCTTAGTCCCTTTGCCTTCATGCTTGGAATGGCCCAGCTTTTACACTTGGACTATGATTTGAATTCTAATGCATTTCCTCATCCATCGGACGGCTCAAATCTCATTGTAGCAACAAATTTCATGTTGGCATTTGACACTTGCCTCTATCTGGCATTGGCGATTTACTTTGAAAAAATTTTGCCAAATGAATATGGACATCGACGTCCACCTTTGTTTTTCCTGAAGTCCTCATTTTGGTCTCAAACACAAAAGACTGATCACGTGGCCCTTGAAGATGAAATGGATGCCGATCCTTCATTTCATGACTCTTTTGAACAAGCGCCTCCAGAATTCCAAGGGAAAGAAGCCATCAGAATCAGAAATGTTACAAAAGAATATAAAGGAAAGCCTGATAAAATAGAAGCCTTGAAAGATCTGGTATTTGACATTTACGAAGGCCAAATCACTGCAATACTTGGTCACAGTGGAGCTGGAAAGTCAACACTGCTAAACATTCTTAGTGGGTTGTCTGTTCCCACCAAAGGTTCAGTCACCATCTATAACAATAAGCTTTCAGAAATGGCTGACCTAGAAAATCTCAGCAAGCTGACCGGAGTTTGTCCACAATCCAATGTGCAATTTGACTTCCTCACTGTAAGAGAAAACCTCAGACTCTTTGCTAAAATAAAAGGGATTCTGCCACAAGAAGTGGATAAAGAGATACAAAGGGTTCTGCTGGAATTGGAAATGAAAAATATTCAGGATGTTCTTGCTCAAAACTTAAGTGGTGGACAGAAAAGAAAGCTAACCTTTGGGATTGCCATTTTAGGAGATCCTCAGATTTTCCTGTTGGATGAACCAACTGCTGGATTGGATCCCTTTTCAAGACACCAAGTATGGAACCTTCTGAAAGAACGCAAAACAGACCGCGTGATCCTCTTCAGTACCCAGTTCATGGATGAGGCCGACATCCTGGCGGACAGGAAAGTATTTCTCTCCCAAGGGAAGCTAAAGTGCGCGGGCTCTTCTTTGTTTCTAAAGAAGAAATGGGGGATTGGATATCACTTAAGCTTGCAGTTAAATGAAATATGTGTTGAGGAAAACATAACATCACTTGTTAAACAGCACATCCCTGATGCCAAATTATCAGCCAAAAGCGAAGGAAAACTTATTTATACATTACCCTTAGAAAGAACAAATAAATTTCCAGAACTTTACAAGGATCTTGATAGCTATCCTGACCTAGGAATTGAGAATTATGGTGTTTCCATGACAACTTTGAATGAAGTATTCCTGAAGCTAGAAGGAAAATCTACAATTAATGAATCGGACATTGCTATTTTGGGAGAAGTACAAGCGGAAAAAGCTGACGACACTGAAAGGCTTGTTGAGATGGAACAAGTCCTCTCTTCACTTAACAAGATGAGAAAGACAATAGGTGGTGTGGCTCTCTGGCGACAGCAAATCTGCGCAATTGCAAGGGTTCGCTTGTTAAAGTTAAAGCATGAAAGAAAAGCTCTTTTAGCACTGCTATTAATTCTAATGGCTGGATTTTGCCCTCTTCTTGTGGAGTATACCATGGTGAAAATATATCAAAACAGTTACACCTGGGAACTTTCTCCTCATTTGTATTTCCTTGCTCCTGGACAACAACCACATGACCCTCTCACTCAACTACTGATCATCAATAAAACAGGGGCAAGCATTGATGACTTTATACAGTCTGTGGAGCACCAGAACATAGCTTTAGAAGTGGATGCATTTGGAACTAGAAATGGCACAGATGACCCATCTTATAATGGAGCCATCACAGTGTGTTGTAATGAAAAGAATTACAGCTTTTCGTTAGCATGCAATGCCAAAAGATTGAATTGCTTCCCAGTTCTTATGGACATTGTTAGTAATGGGCTACTTGGAATGGTTAAACCATCAGTACATATCCGAACTGAAAGAAGTACATTTTTGGAGAATGGACAGGACAATCCAATCGGATTCCTGGCATATATCATGTTCTGGCTGGTTTTAACATCGAGTTGCCCACCTTACATTGCCATGAGCAGCATCGATGATTATAAGAACAGAGCTCGGTCCCAGCTACGGATTTCCGGACTCTCCCCTTCTGCTTACTGGTTTGGGCAGGCGCTGGTGGATGTTTCCCTGTACTTCTTGGTCTTCGTTTTTATATATTTAATGAGCTACATTTCAAACTTCGAAGACATGCTACTTACAATAATTCATATTATTCAAATCCCATGTGCTGTTGGTTATTCCTTTTCCCTCATCTTCATGACATACGTGATTTCCTTCATCTTTCGCAAGGGGAGAAAAAATAGTGGCATTTGGTCATTTTGTTTCTATGTTGTCACTGTATTCTCTGTGGCTGGATTTGCGTTCAGTATCTTCGAAAGTGATATTCCATTTATCTTCACTTTTTTAATACCACCTGCCACAATGATTGGCTGTTTGTTCTTATCTTCTCATCTTCTCTTTTCTTCTCTCTTTTCTGAAGAACGAATGGATGTACAGCCATTTCTGGTATTCCTAATTCCTTTCCTTCATTTTATCATTTTTCTTTTTACTCTTCGATGTCTGGAATGGAAGTTTGGAAAGAAATCAATGAGAAAGGATCCTTTCTTTAGAATTTCTCCAAGAAGTAGTGATGTGTGTCAAAATCCAGAAGAACCAGAAGGAGAGGATGAAGATGTTCAGATGGAAAGAGTGAGAACAGCAAATGCCTTGAATTCTACTAATTTTGATGAGAAGCCAGTCATCATTGCCAGCTGTCTACGCAAGGAGTATGCAGGGAAGAGGAAAGGCTGTTTTTCCAAGAGGAAGAATAAGATAGCCACGAGAAATGTCTCCTTCTGTGTTAGAAAAGGTGAAGTTTTAGGATTATTAGGACACAATGGAGCTGGTAAAAGCACATCCATTAAGGTGATAACTGGAGACACAAAACCAACTGCTGGACAAGTGCTACTGAAAGGGAGCGGTGGAGGGGATGCCCTGGAGTTCCTGGGGTACTGCCCTCAGGAGAACGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCCGCCGTGAAAGGGCTGAGGAAAGGGGATGCTGAGGTTGCCATCACACGGTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGTCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGAGAAAGCTGTGCTTTGTCCTGAGCATACTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTGGCAGGCCATCCGGGCCACCTTTAGAAACACGGAAAGGGGTGCCCTCCTAACCACCCACTACATGGCAGAGGCTGAGGCCGTGTGTGACCGAGTGGCCATCATGGTATCTGGGAGGTTGAGATGTATCGGTTCCATCCAACACCTGAAAAGCAAATTTGGCAAAGATTACCTGCTGGAGATGAAGGTGAAGAACCTGGCACAAGTGGAGCCCCTCCATGCAGAGATCCTGAGGCTTTTCCCCCAGGCTGCTCGGCAGGAAAGGTACTCCTCTCTGATGGTTTATAAGTTGCCAGTGGAAGATGTGCAACCTTTAGCCCAAGCTTTCTTCAAATTAGAGAAGGTTAAACAGAGCTTTGACCTAGAGGAGTACAGCCTCTCACAGTCTACCCTGGAGCAGGTTTTCCTGGAGCTCTCCAAGGAGCAGGAGCTGGGTGATTTTGAGGAGGATTTTGATCCCTCAGTGAAGTGGAAGCTCCTCCCCCAGGAAGAGCCTTAA
Amino sequence
MRKRKISVCQQTWALLCKNFLKKWRMKRESLMEWLNSLLLLLCLYIYPHSHQVNDFSSLLTMDLGRVDTFNESRFSVVYTPVTNTTQQIMNKVASTPFLAGKEVLGLPDEESIKEFTANYPEEIVRVTFTNTYSYHLKFLLGHGMPAKKEHKDHTAHCYETNEDVYCEVSVFWKEGFVALQAAINAAIIEITTNHSVMEELMSVTGKNMKMHSFIGQSGVITDLYLFSCIISFSSFIYYASVNVTRERKRMKALMTMMGLRDSAFWLSWGLLYAGFIFIMALFLALVIRSTQFIILSGFMVVFSLFLLYGLSLVALAFLMSILVKKSFLTGLVVFLLTVFWGCLGFTSLYRHLPASLEWILSLLSPFAFMLGMAQLLHLDYDLNSNAFPHPSDGSNLIVATNFMLAFDTCLYLALAIYFEKILPNEYGHRRPPLFFLKSSFWSQTQKTDHVALEDEMDADPSFHDSFEQAPPEFQGKEAIRIRNVTKEYKGKPDKIEALKDLVFDIYEGQITAILGHSGAGKSTLLNILSGLSVPTKGSVTIYNNKLSEMADLENLSKLTGVCPQSNVQFDFLTVRENLRLFAKIKGILPQEVDKEIQRVLLELEMKNIQDVLAQNLSGGQKRKLTFGIAILGDPQIFLLDEPTAGLDPFSRHQVWNLLKERKTDRVILFSTQFMDEADILADRKVFLSQGKLKCAGSSLFLKKKWGIGYHLSLQLNEICVEENITSLVKQHIPDAKLSAKSEGKLIYTLPLERTNKFPELYKDLDSYPDLGIENYGVSMTTLNEVFLKLEGKSTINESDIAILGEVQAEKADDTERLVEMEQVLSSLNKMRKTIGGVALWRQQICAIARVRLLKLKHERKALLALLLILMAGFCPLLVEYTMVKIYQNSYTWELSPHLYFLAPGQQPHDPLTQLLIINKTGASIDDFIQSVEHQNIALEVDAFGTRNGTDDPSYNGAITVCCNEKNYSFSLACNAKRLNCFPVLMDIVSNGLLGMVKPSVHIRTERSTFLENGQDNPIGFLAYIMFWLVLTSSCPPYIAMSSIDDYKNRARSQLRISGLSPSAYWFGQALVDVSLYFLVFVFIYLMSYISNFEDMLLTIIHIIQIPCAVGYSFSLIFMTYVISFIFRKGRKNSGIWSFCFYVVTVFSVAGFAFSIFESDIPFIFTFLIPPATMIGCLFLSSHLLFSSLFSEERMDVQPFLVFLIPFLHFIIFLFTLRCLEWKFGKKSMRKDPFFRISPRSSDVCQNPEEPEGEDEDVQMERVRTANALNSTNFDEKPVIIASCLRKEYAGKRKGCFSKRKNKIATRNVSFCVRKGEVLGLLGHNGAGKSTSIKVITGDTKPTAGQVLLKGSGGGDALEFLGYCPQENALWPNLTVRQHLEVYAAVKGLRKGDAEVAITRLVDALKLQDQLKSPVKTLSEGIKRKLCFVLSILGNPSVVLLDEPSTGMDPEGQQQMWQAIRATFRNTERGALLTTHYMAEAEAVCDRVAIMVSGRLRCIGSIQHLKSKFGKDYLLEMKVKNLAQVEPLHAEILRLFPQAARQERYSSLMVYKLPVEDVQPLAQAFFKLEKVKQSFDLEEYSLSQSTLEQVFLELSKEQELGDFEEDFDPSVKWKLLPQEEP*