ALT SPL MUT DB

Alternative Splicing Mutation Database

Bechtel J M, Rajesh P, Ilikchyan I, Deng Y, Mishra P K, Wang Q, Wu X, Afonin K, Grose W E, Wang Y, Khuder S, and Fedorov A
NOTE: This is the final 1.0 release of the ASMD. All substitution mutations now have a note describing the codon change involved, based on the exon phase according to the EID. Entry 11 was found to describe a substitution in the last position of its exon (so, in a splicing junction) and had to be removed. A deposition form will be forthcoming.
NOTE: Later releases of the ASMD are now available by following this link. It has a much improved interface, many more entries, a true relational database back-end, and a public deposition form. This site is preserved for now, but may disappear in the future. The link to the more permanent home for the 1.0 release is http://mco321125.meduohio.edu/~jbechtel/asmd/1.0/. Please update any bookmarks to reflect the new location.


Gene info: EID ID [11723_NT_033899]
>11723_NT_033899 protein_id:NP_000181.2; Homo sapiens chromosome 11 genomic contig. /gene="HMBS"; intron(phase:0010222000000,size:3188,326,374,85,410,229,122,1147,598,240,234,123,88,intr_sum:7164); exon(size:184,54,73,50,56,78,78,76,114,39,120,54,87,438,ex_sum:1501); {splice:gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag}; CDS_start=152, CDS_end=8401, CDS_len=1086
GTGACGCGAGGCTCTGCGGAGACCAGGAGTCAGACTGTAGGACGACCTCGGGTCCCACGTGTCCCCGGTACTCGCCGGCC
GGAGCCCCCGGCTTCCCGGGGCCGGGGGACCTTAGCGGCACCCACACACAGCCTACTTTCCAAGCGGAGCCATGTCTGGT
AACGGCAATGCGGCTGCAACGGCG
gtgagtgctgagccggtgaccagcacactttgggcttctggacgagccgtgcagcg
attggccccaggttgccatcctcagtcgtctattggtcagaacggctatctttttttttttttttttttttttttttttg
gtccgagtagcttttaaagggccagtagctcggttgccctccggaaggaatggggaaatcagagagcggtgatactgggt
taagagtggaaggattgtttggaacggaactccggtccctgcgggcatctgggtgggattcccatcaggcctgggatgca
cggctctagatttagtgacccagaccaagaacgttcgtctacacagacggggtcctttcattcgaggctgggctgaggcg
gatgcagatacggcccctttgggaagacacgttccacttttgattcataggagagagtatcagccaagcctccgaactgc
acacaaacgtcttagaagtgcgccttctttttgtgttatagtggtctcccagccacagccaacgctccaagtccccagct
gtgacacacctactgaattactaccgtgggtgggaggccgccgtgggcctttccattacgagcctgcttgccgagccctg
ggcttgtgcacagacaaactgcagagctggtggaggccactgccaggccgagataagaaagagatggggagctgctaatc
tccccctgtccagcctgttggtgagggctgggatctttgctcttgcagtcattccagagccctggactaggagtaggaag
atctgaattgtggccccaactctctttcggttattagctctgtgaccctaggcaagtcacctcatcccttgatgccaccc
gttgcttctgtaacatggtcccaaaggtgcctgtcttgtccacctgataggatttttgagacgacaacaatatgcaaaag
caatagcttcaacatagaagtgctcagtgttttattttttaatgaaacggtttgacttggatatgctgtgcacattcaat
gaacttaaggaattgtttgaacctagtagttctgggaccttagagtcctttctgtgggctccctgtggcccagaattttg
gtggccacgtttaatatcaagcctagcctaatttgcaaagggtctcccagggttaatttattggagtgatcacatggagt
agaccagagtctgagggcagaaagctgtcacctgcttcggcaatagaggccccagatgtctgggtgcaaaagaactccat
agcaccccgaccaacatggtgaaaccccgtctctactaaaaatataaaaattaggccgggcacagtggctcatgcctgta
atcctagcactttgggaggccgaggcaggtggattgcctgagctcaggagttcgagaccagcctagggaacacagtgaaa
ccccgtttctactaaaaatacaaaaaattagccgacgtggtggcatgcgcctgtagtcccagctacttgggaggctaaga
caggagaatcgcttgaacctgggaggtggaggttgcactgagccgagaccgcgccattgcactccagcctgggtgacaga
gcgcgactccccctcaaaaaaagaaaaaaaaaaaaaatatatatatatatatacacacacacacatattttagctgggca
tggtggtgtgcgtctgtagtagtcccagctacttgggaggctgagtcaggagaatcgcttgaacctggaaggcagtggtt
gtagttagctgagaacatgccactgcactccagcctgggcaacagagggagactctgtctcaaaaaaaaaaaaaaaagga
actacataggatgaacatcccagatcagggaatgttgactgtcgacagtatcagtatctacagtggctactgtctgatgt
agaaagaaatgggatcaggctaggcgtggtggctcacgcctgtaatcccagcactttgggaggctggggcaggaggatca
caagttcgagaccagcctggccaacacagtgaaaccccgtctctactaaaaatgtgaaaattagctgggcatggtggaac
atgcctgtagttccagcttgaacccaggggtggaggttgtagtgagcctagatcacgccactgcactccagcctgagcaa
aacagtgagactctgtctaaaaaaaaaaaaaaaaaaagagagaaatgggacctccgtcttagactgaagaattcagttct
acgtgcttagcagtgaatacttttgtccaaggtactctggcaggaggaagaggcgtgtcctcttgagttcttgacttggg
ctctggcctgttaatatttccatgttggtgaaaccagaggcagcactctaggtgcacgaactttaggcagcgcagcctcc
tagtcttatggaacatctgaggcagaagaaacctgagtccaaccttttcattttatagatgaacaaacagatcctggtgg
gacagtgtacccaaggtcacccagccaagaggctgagcaggactgtacgtcagatccgtttacctcagtccttaatgcat
gcagtccagccagattaagggacccttaatactgtcagctttccccactgtgggatcttcatcctcttgacttcttttgt
agccagacatctgggcctcttgctggagaaggtggcagcttgctgctcttagactctagtctactccatgtggcatctgg
atggcactgaaattttctcaagtgccttgtctgttgtagataatgaatctatcctccagtgactcagcacaggttcccca
gtgtggtcctggctgccctgcccctgccagctgcaggccccacccttcctgtggccaggctgatgggccttatctcttta
cccacctggctgtgcacagcactcccactgacaactgccttggtcaaggtgggcttcagggctcagtgtcctggttactg
cagcggcagcaacagcaggtcctactatcgcctccctctagtctctgcttctctggatccctgaggagggcagaaggtac
tgaggaaggttaaagggaccagccttggagtatttccccactctgagactcagctggccacaggccaggttctgaagttc
ctttcttccaagccagtgattctggttcttggacaaggtgttgaggaacactagaaacagaggggactgtgacctgggga
ctttttctgcag
GAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAGgtgggtgcaggagc
cggggtggaggaggtttgtcagaacagttatgatgctcacagcatcacaaattgggggactcagagggttagttcctagt
atgaaggagatggggtggctgggcgttaagttccccgggaaatggcagattacattctatggcaagatcatccctaggct
gggaaaattgttggagtgcagagggctcccaagccccttctcatgcccagatggaaattccagtcccttcaggatctgcc
taacctgtgacagtctaaagagtctgagccgtggctgggaagggcaggactaatccaagtctctacccgcag
CTTGCTCG
CATACAGACGGACAGTGTGGTGGCAACATTGAAAGCCTCGTACCCTGGCCTGCAGTTTGAAATCA
gtgagttttctggaa
aggagtggaagctaatgggaagcccagtaccccgagaggagagaacacaacatttctggctttgcctatagctaaagccc
gtcccgctgccccgagattccttctgggctgctcccagttctgaaggtgctttcctctgaatacctccagctctgactac
ctggattagcctggcatttaacatcttgagctttgggtctttttatgagtgtttctggtcttcctgctcgattgtatata
ctcagagggcaggaaccagggattatgtgcctctgtccccatcatgaatcgtagcacagcgctaggctcagtaaatgctg
atcaataatgagcacctgattgattgactctctcctcag
TTGCTATGTCCACCACAGGGGACAAGATTCTTGATACTGCA
CTCTCTAAG
gtaacaacatcttcctccccagttcttgtccccactcttctttccttccctgaagggattcactcaggctc
tttctgtccggcag
ATTGGAGAGAAAAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAgtaagtaaag
ataggagagtgtggtgccctcccagtctcttgctgggaccctagtatgctaggtctcttgctgggacccggggtgtcaga
taggctgctgggcttaaaccctcagagaggctgaaggcagctcataggtgggttttttcaggcttcagaaaaggagagtg
tctggttctgagccatctggctgcctggactgcaagaatggctgggggagggagggtaggagggagagtaggagggagag
tgagaggagagcagttttcatgctcctgagatcttgagaaggtgtgcttcctgaactgccctaggctccaccactgaagt
agaggcaggggtgggtggagaaggggtgaaggctggctgctcataccctttctctttgcccccctctcccatctctatag
AGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAgt
aagagtcttgcaagtaaggggcttgggcaggggtaggcatcatgtgaacctttgcctttccctttggggcctgaccctct
gcttcagggttatctcctctgccctgaggagtgttgactggtggcagaaaactcaagaaataccagtgagttggcaatcg
agagagaatagaggtgatctgaacttaaatctcttccctcattctgtgcccttccctcctcccccag
GCGGGAAAACCCT
CATGATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACCCTAGAAACCCTGCCAGAGAAGAG
gtaagtggggcctgg
ataggcagcttggtgggatgtgcccagaagatgcagggatgggaggaggaggaaaggaacagtgactgcctagtgttaaa
atctcattgtaacttctctctgggcag
TGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCC
CGCATCTGGAGTTCAGGAGTATT
gtatccttttagaagagtgacggatccttttggaagagtgacggagacagcagccaa
ggaaaaagacaaggtctagagggctctgggagtccggagagtggaaggggcttccagcaagcagcccgtggggtcagtgg
cctgtctgtctttccatgcactcatccgtccactcatttacagtctaatgttttcttagccccagacaagtgttcagagt
gcaaggcattggggataatggtgagcaagataaacatttccctgcatatgtagagtttacgtcttacttagggataatgc
agttatactgaactgaatagtgactacttctggagggatagggagtacttccttttttttttttttttttttctgagacg
gagtctcgctctgttgcccaggttggagtgcagtggcgcaatctaggctcactgcaacttctgcctcctgagttcaagca
atcttcctgcctcagcctcctaagtagttgggattacaggtgccaccacacctggctaatttttgtatttttagtagaga
ctgggtttcaccatgttagtcaggctggtctcaaactcctgacctcaggtgatccaccagcctcggcctcccaaagggct
gggattacaggcttgagccccgcacccggtcagtacttccatttttatatgctactatattgtcttgacttttacaatga
atatgtagtacatttcataaaactaaatttaaaaatagtatgtgctaagtgctccaataagtgaagttgggaattttctg
gaaacttctagttggaacatctaaacacagaagtctggggtgtcagggaaggtttctcagaggtcttgtaaccttggcaa
gttatttagcctccctatgtcattttccttatctgtaaagtggggataataatactaccttcctcacagggttgttgtga
agatgaaatgagctgacatatggaaagtacttttagagcagtgtctggcatgtagtaagtatgatgtaactgttagctgt
taacattaagctgagagctggaagatgactgaaagtcagccagctagagagggaaagacagactcaggcagagggaaccg
cacgaggccccagattgcccgacactgtggtccttagcaactctccacag
CGGGGAAACCTCAACACCCGGCTTCGGAAG
CTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGG
GCAG
gtagggcctgcccctatcctctccccagctcatctgcatctcctttctgccttacagtcatccccaatttaggatt
tttagactttatgattgtgtgaaagcgatatacgttcagtagaaactgtacttagtacccatacagccattctgtttttt
actttcagtacagtattcattacatgagatattcactttattgtaaaacaggcttggtgtcagatgattttgtccaacta
taataggctaatcttaagtgttctgagcacatgtaaggtaggctaggtgtattaaatgcattttcagcttgttttcaact
taacaatgggtttatcaggatgtaaccctattgtaagtcaaggaccatctgtcttcacttcttgaccaccccacctctaa
caccgtaggctgggaagattgtgaatcagaggccagactctaggctttcatggagaaaatttacaaaaaaaaaaaaaaag
aggccagactcacacttaggcctacccaggctttctagatgatagggaactcccatctcactgccaggtgcttttagaca
cccccgtgtccacccttttgactccctgttccgcctccacag
ATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCA
G
gtacacttgaccagggaagccacatggtgacatatgccttccctttgttctcaaccaagaagcttgtctcacaaccttc
tgcatctgcttccccagaatagcattctcagggaggggcagaccttgggatgctaccggtccaaaaggcgctggggagca
agtagatagaggtggtcccatgctttgcgccattggttggggaaagatcaggcctgatgtcctaggatgtttttccatca
g
GGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTC
TGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTG
gtagggcctgtgctccacctgtggagggctggggacttg
gagagctgggaaaggtggcagggaagatttcttacatgaatgctctgtatacagtgctaactcattcttgttgaatgttg
tgtatggataggaccaggtctgggcccacagttgccttttcagtgatgtcctcaggtctgtggtcacagggtggtgttaa
gagcccttgcagctcacaagaacttcttgttacag
GAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAG
GATGGGCAA
gtaagtggggggaaatgggcgggaagccagggaaaggaggactgtggcatttcttcctgtgcatcccaggt
ttctaggtagtcccctctcagactgtgctgaggcaactgttttcttccccag
CTGTACCTGACTGGAGGAGTCTGGAGTC
TAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAG
gtaccaaagctggagggcgag
ggggtaataaacaagagtgcatataatctcttgttctcaccaaatcccacctccttccctcatacag
CATGAAGATGGCC
CTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGC
ATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTA
ACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGC
TATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGA
TGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATC
CTACTAATAAACCAGTTCTGAAGGT


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