ENST00000681142.1 BLM

Information
Transcript ID
ENST00000681142.1
Genome
hg19
Position
chr15:91,260,594-91,355,186
Strand
+
CDS length
4,119
Amino acid length
1,373
Gene symbol
BLM
Gene type
protein-coding
Gene description
BLM RecQ like helicase
Gene Entrez Gene ID
641
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
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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
1 91,260,594 91,260,671
2 91,290,619 91,290,720
3 91,292,597 91,293,297
4 91,295,017 91,295,176
5 91,298,041 91,298,168
6 91,303,377 91,303,509
7 91,303,824 91,304,485
8 91,306,196 91,306,387
9 91,308,526 91,308,644
10 91,310,140 91,310,253
11 91,312,363 91,312,461
12 91,312,668 91,312,816
13 91,326,052 91,326,158
14 91,328,151 91,328,311
15 91,333,879 91,334,074
16 91,337,397 91,337,587
17 91,341,420 91,341,567
18 91,346,751 91,346,950
19 91,347,397 91,347,589
20 91,352,367 91,352,489
21 91,354,435 91,354,636
22 91,355,075 91,355,186
CDS
Exon number Type Start Stop
2 CDS 91,290,623 91,290,720
3 CDS 91,292,597 91,293,297
4 CDS 91,295,017 91,295,176
5 CDS 91,298,041 91,298,168
6 CDS 91,303,377 91,303,509
7 CDS 91,303,824 91,304,485
8 CDS 91,306,196 91,306,387
9 CDS 91,308,526 91,308,644
10 CDS 91,310,140 91,310,253
11 CDS 91,312,363 91,312,461
12 CDS 91,312,668 91,312,816
13 CDS 91,326,052 91,326,158
14 CDS 91,328,151 91,328,311
15 CDS 91,333,879 91,334,074
16 CDS 91,337,397 91,337,587
17 CDS 91,341,420 91,341,567
18 CDS 91,346,751 91,346,950
19 CDS 91,347,397 91,347,589
20 CDS 91,352,367 91,352,489
21 CDS 91,354,435 91,354,636
22 CDS 91,355,075 91,355,117
Other genome
Genome Chromosome Start End Links
hg38 chr15 90,717,363 90,811,956 Link
CDS sequence
ATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCAGGTTTCACTTTTAAAAAGAAAACATCTTCAGATAACAATGTATCTGTAACTAATGTGTCAGTAGCAAAAACACCTGTATTAAGAAATAAAGATGTTAATGTTACCGAAGACTTTTCCTTCAGTGAACCTCTACCCAACACCACAAATCAGCAAAGGGTCAAGGACTTCTTTAAAAATGCTCCAGCAGGACAGGAAACACAGAGAGGTGGATCAAAATCATTATTGCCAGATTTCTTGCAGACTCCGAAGGAAGTTGTATGCACTACCCAAAACACACCAACTGTAAAGAAATCCCGGGATACTGCTCTCAAGAAATTAGAATTTAGTTCTTCACCAGATTCTTTAAGTACCATCAATGATTGGGATGATATGGATGACTTTGATACTTCTGAGACTTCAAAATCATTTGTTACACCACCCCAAAGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGATAATAGCGAAAAGAAGAAGAATTTGGAAGAAGCTGAATTACATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTATGATACGGATTTTGTTCCACCTTCTCCAGAAGAAATTATTTCTGCTTCTTCTTCCTCTTCAAAATGCCTTAGTACGTTAAAGGACCTTGACACCTCTGACAGAAAAGAGGATGTTCTTAGCACATCAAAAGATCTTTTGTCAAAACCTGAGAAAATGAGTATGCAGGAGCTGAATCCAGAAACCAGCACAGACTGTGACGCTAGACAGATAAGTTTACAGCAGCAGCTTATTCATGTGATGGAGCACATCTGTAAATTAATTGATACTATTCCTGATGATAAACTGAAACTTTTGGATTGTGGGAACGAACTGCTTCAGCAGCGGAACATAAGAAGGAAACTTCTAACGGAAGTAGATTTTAATAAAAGTGATGCCAGTCTTCTTGGCTCATTGTGGAGATACAGGCCTGATTCACTTGATGGCCCTATGGAGGGTGATTCCTGCCCTACAGGGAATTCTATGAAGGAGTTAAATTTTTCACACCTTCCCTCAAATTCTGTTTCTCCTGGGGACTGTTTACTGACTACCACCCTAGGAAAGACAGGATTCTCTGCCACCAGGAAGAATCTTTTTGAAAGGCCTTTATTCAATACCCATTTACAGAAGTCCTTTGTAAGTAGCAACTGGGCTGAAACACCAAGACTAGGAAAAAAAAATGAAAGCTCTTATTTCCCAGGAAATGTTCTCACAAGCACTGCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGACAAGTCAGCACAAAATTTAGCATCCAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGGAAATGATGAAGATTTTTCATAAAAAATTTGGCCTGCATAATTTTAGAACTAATCAGCTAGAGGCGATCAATGCTGCACTGCTTGGTGAAGACTGTTTTATCCTGATGCCGACTGGAGGTGGTAAGAGTTTGTGTTACCAGCTCCCTGCCTGTGTTTCTCCTGGGGTCACTGTTGTCATTTCTCCCTTGAGATCACTTATCGTAGATCAAGTCCAAAAGCTGACTTCCTTGGATATTCCAGCTACATATCTGACAGGTGATAAGACTGACTCAGAAGCTACAAATATTTACCTCCAGTTATCAAAAAAAGACCCAATCATAAAACTTCTATATGTCACTCCAGAAAAGATCTGTGCAAGTAACAGACTCATTTCTACTCTGGAGAATCTCTATGAGAGGAAGCTCTTGGCACGTTTTGTTATTGATGAAGCACATTGTGTCAGTCAGTGGGGACATGATTTTCGTCAAGATTACAAAAGAATGAATATGCTTCGCCAGAAGTTTCCTTCTGTTCCGGTGATGGCTCTTACGGCCACAGCTAATCCCAGGGTACAGAAGGACATCCTGACTCAGCTGAAGATTCTCAGACCTCAGGTGTTTAGCATGAGCTTTAACAGACATAATCTGAAATACTATGTATTACCGAAAAAGCCTAAAAAGGTGGCATTTGATTGCCTAGAATGGATCAGAAAGCACCACCCATATGATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAATGTGACACCATGGCTGACACGTTACAGAGAGATGGGCTCGCTGCTCTTGCTTACCATGCTGGCCTCAGTGATTCTGCCAGAGATGAAGTGCAGCAGAAGTGGATTAATCAGGATGGCTGTCAGGTTATCTGTGCTACAATTGCATTTGGAATGGGGATTGACAAACCGGACGTGCGATTTGTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTTACTACCAAGAATCTGGCAGAGCTGGAAGAGATGGGGAAATATCTCACTGCCTGCTTTTCTATACCTATCATGATGTGACCAGACTGAAAAGACTTATAATGATGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCATGGTACATTACTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTTAATCCTGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGATTATAAAACAAGAGATGTGACTGACGATGTGAAAAGTATTGTAAGATTTGTTCAAGAACATAGTTCATCACAAGGAATGAGAAATATAAAACATGTAGGTCCTTCTGGAAGATTTACTATGAATATGCTGGTCGACATTTTCTTGGGGAGTAAGAGTGCAAAAATCCAGTCAGGTATATTTGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACTTTTTAAAAAGCTGATACTTGACAAGATTTTGGATGAAGACTTATATATCAATGCCAATGACCAGGCGATCGCTTATGTGATGCTCGGAAATAAAGCCCAAACTGTACTAAATGGCAATTTAAAGGTAGACTTTATGGAAACAGAAAATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAAAGTGTCTCAGAGGGAAGAGATGGTTAAAAAATGTCTTGGAGAACTTACAGAAGTCTGCAAATCTCTGGGGAAAGTTTTTGGTGTCCATTACTTCAATATTTTTAATACCGTCACTCTCAAGAAGCTTGCAGAATCTTTATCTTCTGATCCTGAGGTTTTGCTTCAAATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGCTGAAGACAGTTCCCCAGGGATAAGCCTGTCCAGCAGCAGAGGCCCCGGAAGAAGTGCCGCTGAGGAGCTCGACGAGGAAATACCCGTATCTTCCCACTACTTTGCAAGTAAAACCAGAAATGAAAGGAAGAGGAAAAAGATGCCAGCCTCCCAAAGGTCTAAGAGGAGAAAAACTGCTTCCAGTGGTTCCAAGGCAAAGGGATGGAGTTTCCCCATGTTGCCCAGGCTGGTCTCAAACTCCTGA
Amino sequence
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKKQKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIPVSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGWSFPMLPRLVSNS*