Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

641

Name

BLM

Synonym

BS|RECQ2|RECQL2|RECQL3;Bloom syndrome, RecQ helicase-like;BLM;Bloom syndrome, RecQ helicase-like

Definition

Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3

Position

15q26.1

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

3492

TUSON P-value

1

Pathways and Diseases

Pathway

Homologous recombination;KEGG PATHWAY;hsa03440

Pathway

Regulation of Telomerase;PID Curated;200072

Disease

Endocrine system disease;FunDO

Disease

Colon cancer;FunDO

Disease

Embryoma;FunDO

Disease

HIV infection;FunDO

Disease

Bloom's syndrome;GAD

Disease

Fanconi's anemia;FunDO

Disease

Genetic disorders;KEGG DISEASE

Disease

Stomach cancer;FunDO

Disease

Inherited disorders of DNA repair systems;KEGG DISEASE

Disease

Immune system diseases;KEGG DISEASE

Disease

Lung cancer;FunDO

Disease

DNA repair defect;KEGG DISEASE;H00094

Disease

Leukemia;FunDO

Disease

Defects in RecQ helicases;KEGG DISEASE;H00296

Disease

Primary immunodeficiency;KEGG DISEASE

Disease

Leukoencephalopathy;FunDO

Disease

Bloom syndrome;OMIM

External Links

Links to Entrez Gene

641

Links to all GeneRIF Items

641

Links to iHOP

641

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

Nucleotide Sequence

>641 : length: 4254
atggctgctgttcctcaaaataatctacaggagcaactagaacgtcactcagccagaaca
cttaataataaattaagtctttcaaaaccaaaattttcaggtttcacttttaaaaagaaa
acatcttcagataacaatgtatctgtaactaatgtgtcagtagcaaaaacacctgtatta
agaaataaagatgttaatgttaccgaagacttttccttcagtgaacctctacccaacacc
acaaatcagcaaagggtcaaggacttctttaaaaatgctccagcaggacaggaaacacag
agaggtggatcaaaatcattattgccagatttcttgcagactccgaaggaagttgtatgc
actacccaaaacacaccaactgtaaagaaatcccgggatactgctctcaagaaattagaa
tttagttcttcaccagattctttaagtaccatcaatgattgggatgatatggatgacttt
gatacttctgagacttcaaaatcatttgttacaccaccccaaagtcactttgtaagagta
agcactgctcagaaatcaaaaaagggtaagagaaacttttttaaagcacagctttataca
acaaacacagtaaagactgatttgcctccaccctcctctgaaagcgagcaaatagatttg
actgaggaacagaaggatgactcagaatggttaagcagcgatgtgatttgcatcgatgat
ggccccattgctgaagtgcatataaatgaagatgctcaggaaagtgactctctgaaaact
catttggaagatgaaagagataatagcgaaaagaagaagaatttggaagaagctgaatta
cattcaactgagaaagttccatgtattgaatttgatgatgatgattatgatacggatttt
gttccaccttctccagaagaaattatttctgcttcttcttcctcttcaaaatgccttagt
acgttaaaggaccttgacacctctgacagaaaagaggatgttcttagcacatcaaaagat
cttttgtcaaaacctgagaaaatgagtatgcaggagctgaatccagaaaccagcacagac
tgtgacgctagacagataagtttacagcagcagcttattcatgtgatggagcacatctgt
aaattaattgatactattcctgatgataaactgaaacttttggattgtgggaacgaactg
cttcagcagcggaacataagaaggaaacttctaacggaagtagattttaataaaagtgat
gccagtcttcttggctcattgtggagatacaggcctgattcacttgatggccctatggag
ggtgattcctgccctacagggaattctatgaaggagttaaatttttcacaccttccctca
aattctgtttctcctggggactgtttactgactaccaccctaggaaagacaggattctct
gccaccaggaagaatctttttgaaaggcctttattcaatacccatttacagaagtccttt
gtaagtagcaactgggctgaaacaccaagactaggaaaaaaaaatgaaagctcttatttc
ccaggaaatgttctcacaagcactgctgtgaaagatcagaataaacatactgcttcaata
aatgacttagaaagagaaacccaaccttcctatgatattgataattttgacatagatgac
tttgatgatgatgatgactgggaagacataatgcataatttagcagccagcaaatcttcc
acagctgcctatcaacccatcaaggaaggtcggccaattaaatcagtatcagaaagactt
tcctcagccaagacagactgtcttccagtgtcatctactgctcaaaatataaacttctca
gagtcaattcagaattatactgacaagtcagcacaaaatttagcatccagaaatctgaaa
catgagcgtttccaaagtcttagttttcctcatacaaaggaaatgatgaagatttttcat
aaaaaatttggcctgcataattttagaactaatcagctagaggcgatcaatgctgcactg
cttggtgaagactgttttatcctgatgccgactggaggtggtaagagtttgtgttaccag
ctccctgcctgtgtttctcctggggtcactgttgtcatttctcccttgagatcacttatc
gtagatcaagtccaaaagctgacttccttggatattccagctacatatctgacaggtgat
aagactgactcagaagctacaaatatttacctccagttatcaaaaaaagacccaatcata
aaacttctatatgtcactccagaaaagatctgtgcaagtaacagactcatttctactctg
gagaatctctatgagaggaagctcttggcacgttttgttattgatgaagcacattgtgtc
agtcagtggggacatgattttcgtcaagattacaaaagaatgaatatgcttcgccagaag
tttccttctgttccggtgatggctcttacggccacagctaatcccagggtacagaaggac
atcctgactcagctgaagattctcagacctcaggtgtttagcatgagctttaacagacat
aatctgaaatactatgtattaccgaaaaagcctaaaaaggtggcatttgattgcctagaa
tggatcagaaagcaccacccatatgattcagggataatttactgcctctccaggcgagaa
tgtgacaccatggctgacacgttacagagagatgggctcgctgctcttgcttaccatgct
ggcctcagtgattctgccagagatgaagtgcagcagaagtggattaatcaggatggctgt
caggttatctgtgctacaattgcatttggaatggggattgacaaaccggacgtgcgattt
gtgattcatgcatctctccctaaatctgtggagggttactaccaagaatctggcagagct
ggaagagatggggaaatatctcactgcctgcttttctatacctatcatgatgtgaccaga
ctgaaaagacttataatgatggaaaaagatggaaaccatcatacaagagaaactcacttc
aataatttgtatagcatggtacattactgtgaaaatataacggaatgcaggagaatacag
cttttggcctactttggtgaaaatggatttaatcctgatttttgtaagaaacacccagat
gtttcttgtgataattgctgtaaaacaaaggattataaaacaagagatgtgactgacgat
gtgaaaagtattgtaagatttgttcaagaacatagttcatcacaaggaatgagaaatata
aaacatgtaggtccttctggaagatttactatgaatatgctggtcgacattttcttgggg
agtaagagtgcaaaaatccagtcaggtatatttggaaaaggatctgcttattcacgacac
aatgccgaaagactttttaaaaagctgatacttgacaagattttggatgaagacttatat
atcaatgccaatgaccaggcgatcgcttatgtgatgctcggaaataaagcccaaactgta
ctaaatggcaatttaaaggtagactttatggaaacagaaaattccagcagtgtgaaaaaa
caaaaagcgttagtagcaaaagtgtctcagagggaagagatggttaaaaaatgtcttgga
gaacttacagaagtctgcaaatctctggggaaagtttttggtgtccattacttcaatatt
tttaataccgtcactctcaagaagcttgcagaatctttatcttctgatcctgaggttttg
cttcaaattgatggtgttactgaagacaaactggaaaaatatggtgcggaagtgatttca
gtattacagaaatactctgaatggacatcgccagctgaagacagttccccagggataagc
ctgtccagcagcagaggccccggaagaagtgccgctgaggagctcgacgaggaaataccc
gtatcttcccactactttgcaagtaaaaccagaaatgaaaggaagaggaaaaagatgcca
gcctcccaaaggtctaagaggagaaaaactgcttccagtggttccaaggcaaaggggggg
tctgccacatgtagaaagatatcttccaaaacgaaatcctccagcatcattggatccagt
tcagcctcacatacttctcaagcgacatcaggagccaatagcaaattggggattatggct
ccaccgaagcctataaatagaccgtttcttaagccttcatatgcattctcataa

Protein Sequence

>641 : length: 1417
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL
RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC
TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV
STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD
GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD
CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS
ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI
NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH
KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI
VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL
ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF
VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF
NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD
VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH
NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS
SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS



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