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 [14101_NT_010194]
>14101_NT_010194 protein_id:NP_002216.1; Homo sapiens chromosome 15 genomic contig. /gene="IVD"; intron(phase:00101012001,size:1664,211,2637,462,201,1299,1801,418,595,107,1767,intr_sum:11162); exon(size:487,90,52,170,94,137,97,94,82,105,73,735,ex_sum:2216); {splice:gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag,gtag}; CDS_start=344, CDS_end=12777, CDS_len=1272
TTTCCGCAGTTAGGGGCTGCTATTTCAACGCAGGGAGATAAAAAGAAAAAAACACTTGCTCTTCTACCCCGCTAAAAACA
CTCATCCTAGGGAGCACGCCAGCATTTGCAGCGTTCGGGGCAGGGCCACTCGGCCTGCGGCCGTTGCACTGGCTGGAAGC
TGGCAGGCGATCACGGTTGATTGGCTCGGGTGCGGTCCAAGGGCAGCAACGCCTTCGGCGGGCCGCCTAGGGTGATTGGC
TGCTGCAGCCCACCCCCTAGCCGGTTTGGTGGGCGGCGAAGCCTGGATTGGTGGAGCTAAGAGCTGGCTCAGTTTCAGCG
CTGGCTCTTCGTGCATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTGCGGCCG
CCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGATGCAATCAATGGGCTAAGCGAGGAGCA
GAGGCAG
gtgaggagactgacccccttcctggccccaaggcctccttcctgcctggtccccaaggcctccttcctgcctg
gtccccatcggcccagcgcccacccagccttggcttttgcccgtgggccgttgggagcgccagcgcgggggcgggacgcg
gggcctccgacctcgggtccagtcctctgacctcggcctcacgtctgtggagtgaagatttgagaccgtgggacagtact
gctggaagtagagaggaggagtcgaggctgggagagctcctgagagactgatggtgttttggtggaggattggccaggct
acctaccgcttgtggcacaagggccctcaatctgtatgtagttcacttacacctgaacaggctgaggtatgcttctcaca
cctgggtggtcatcgtaatcaccagggagtcttttttgtataaacagtttgggggttttaaaaagccacagtgagctctc
ctgtcgctcttcagcccattgggtcaaaacacaaaagttgaacaagtacttgaaagaagtagttggaggccaggcgccgt
ggctcacacctgtaatcctagcactttgggaggccgaggtgggaggattgtttgagctcaggggtttgagatcagcctaa
gcaacatagccagacccccatctcataaaaaatagaaaagaagacgaagtagtatttacaaatggagcagaaccagagtc
cttcctgaggtttcacttggaggctggatggagttggcggaggtatgagcctcccagcaactccgtagtttatgtttata
gccagcgagcgctcagagcttccgtgaaccacctcaagtggaaagggttcaatccctattctcaagctttcctggcaaga
ggagtttcttttcttttttcttttttttttttttttgagacggagtttcactcttgttgcccaggctggagtgtaatggc
gcgatctccgctcaccacaacgtccgcctcccgggttcaagtgattctcctgcctcagcctcccaggtagctgggattac
aggcatgcaccaccacgcccggctaattttgtgtttttagtagagacggagtttctccatgttggtcaggctggtctcaa
actcccaacctcaggtgatcctcctgcctcggcctcccaaagtgctgggattacaggcatgagccaccatgcccagccgc
caagaggcgtttctaatctctttgggtaatcagacccttttagccaaaggttcgggggcttaaaagagcctgacaactat
tgagatctggcagctgcctggaatgcagctggagcacagagggtgggaggtgggaaggtgctggggaagctaggagagtc
agctggggtcagctcctgcagggcctagtaggcctgggtgagaagcttgtgttttattctaagtacagtggaaaccaatg
gaatgatttttatgtaaagtgtgacgttttaaaaattaccatcaagctgtctaggctgaagaccttaagaaagaggggtg
aagatcatctctgaggaggcataaactactgaggcctctcagtttcagtctgatgctgtttggggaagttacttgtggcc
ttttctcttgaatgtgtctgggtagtggagatgctgtctgcagtggcatctgtttacctctctcctattag
CTTCGTCAG
ACCATGGCTAAGTTCCTTCAGGAGCACCTGGCCCCCAAGGCCCAGGAGATCGATCGCAGCAATGAGTTCAAGAACCTGCG
A
gtgagttgggaggtccgggcagtcgggggcagtcagggagtggggctgagctgcactgctgcctggaagagctcacaca
gttctggtaaatgaagcctctctaagaatgcagcccctctctctgaagtgtttgggtctcattgttccagccacatgtga
ctggctgccttcccctcaacacttattccactctgctccattctgttggcag
GAATTTTGGAAGCAGCTGGGGAACCTGG
GCGTATTGGGCATCACAGCCCCTG
gtgagtatagtgtctttccctaaaaagaacttttcttatgtgccctttaagacagt
tcccaaaagaagcaggaagggaagggaaagattgtgcttaaagaaacccagaactgcatcttttggacctgtgaaagcac
ccattgattgtcagcccagagaacaggacactcttctattttattagacagtgatgtagagaaggcagagggattaatta
ggtcattgtggctcacttggatcaggatcagtccaactcttgaactctgcatacttaataggctcacccaggtgatttgg
gaagtttagaaaactctggatcaagtggttgtcttcatagtacctcagtcttactgcctcccctaatccctataagcttt
gtcctaccagtggcctctcggcaggaacactctgggcaggtgtgtccctgcagggactgcctgtgtcctcttctgcttaa
accttggagctcatttgggagcagatagcggggggagtagggtaggggctgggcaggggagagagatgtctatctgggct
tccaggtgaggtggccagatgatgtgtttaataggctgtccggagggagaaggcagggagctagcaggctctggtttgga
tgatattaacgtctgaaagaggcccagactggcttgcagtgcccggtaaagagatgagcctaggccaggcgtggttgctc
acacctgtaatcccagcactttgggaggccgaggcaggtggatcacctgcggtcgtgagttcgagaccagcctgaccaac
atggagaaactctgtctctactaaaaatacaaaattagctggtcatggtggtacatccctgtaatcccagctactcggga
ggctgaggcaggagaattgcttgaacctgggaggcggaggttgcagtgagctgagattgtgccactgcactccagcctgg
gcaacggagcgaaactccgtttcaaaaaaaaaagcccagcctgcttgggcctgtattcactctgggcatgagagtatgag
tggaacccaatatacttctccttacatcctagaaagttatatcacctttcataaaatgaaaccacttgaagattaattga
aaccatcttaatgtaaaagcattaggggaaaggctgctgggtactcctaagcaagactctcctactgtgttttgggggtt
tatgtaccccactccctgcagacaatatgcttctgaatcagattgtattttacggaagaaagaggcagttagaaatcaga
tgaaaatggccaggtgtggtagtgggctcctataatccgagtgactcgggaggccaaggcaggaggatcgcttgagccca
ggagttcaaggctgcaatgagccatggttacaccattgcaccccagcctggataagagagtgagagcccgcctcttgaaa
aaaaaaaagaaaagaaatcagatgaaaactctttcaagggaacctgaaaaagaaagctggttacaagttctggtttctgc
atgatgtcatggtggctgtttctaatgtcacctgccttcaggctttccttcctgcagttgtaggggcaggtcaaggtttc
cttagagcctagaacgagcctgacttattggtcagagtgaacatgtgtataggaccttgctaggcttgacccaatcagca
gggctgggggtggtatcaggtgtctcagccacttggagtttggatctgctgccaaggaaaaaccgtatattttatgagga
gttctgaaattctctgccagcatctcatctgccctctgctgtacagctcacctcaagattttccctgaggctgtggctct
cctgtcctgtcaccagtcctgcttctttctttttttttttttttttttgagacagaatctcactctgtcgcccaggctgg
agtgcagtggcgcgatctcggctctctgcaagctccacctgccaggttcacaccattctcctgcttcagcctcccgagta
gctgggactacaggcgcccgccaccatgcccggctaattttttgtatttttagtagagacggggtttcaccgtgttagcc
aggatggtcttgatctcctgacctcgtgatctgcccacctcagcctcccaaagtgctgggattacaggcgtgagccccat
gcctggcctccagtcctgcttctttgggttcagccctatgctataaaatctcaccttcctcaggccttttgcagacacat
cagatcctctggctttgtatctgttcttggtgctttggacaccacctccaccccaatgcctttgtttttctccaggccct
ctttcttcatttattcatctgcctctgcatttctgtaactttctgagtagtgggtgctcaggttgttcacgtatcttcat
caagaagtctgtctgggataaagcagaagttgcaatgattgccttctgaatcacccctcagctgaggagcaccagcaggc
aaaaccagtccactgagcttgtaagcaggtctgtggcatcagcttattcttgttgctagagagaatttggagtaggtgct
acaaggtgcttcccttctgccgtcaaatgtaagattcttaatgaatgtcccgatttaatctgggctgcgttttccactcc
cttgtaccacaccactcacag
TTCAGTATGGCGGCTCCGGCCTGGGCTACCTGGAGCATGTGCTGGTGATGGAGGAGATA
TCCCGAGCTTCCGGAGCAGTGGGGCTCAGTTACGGTGCCCACTCCAACCTCTGCATCAACCAGCTTGTACGCAATGGGAA
TGAGGCCCAGAAAGAGAAGTATCTCCCGAAG
gtgaggaaatggaaatgtaatacacgctaatctcacagtgcaaccacca
actaaaagataccctctccccttgggggccagtcagacctgctttctgtagcatgctgccatgaaccaaatgtggttagg
aaggggccatggattgctttaaaatacttgagccaaaaataataaaaataggaccagaactcttgcattgaacaacagac
agacaacatttgaagagaactctaagaaatggaagagtaggactagcttcctttgcaaagggaatggaaaaaggagaggc
attttcagccttgtagccattgggcttagaagagacttctaggactttaccgacaccctggtctgagagcgaagtttgaa
ggggtttaatgtggacaggaagaggcagtaccagtgagctgctctagggtactctgaggttgtaacaaggcctgttgggg
gttttccttgcag
CTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGCTCTGATGTTGTCT
CTATGAAGCTCAAAGCGGAAAAGAAAG
gtgaggccactctcaacttgggagccaaaatgggcagaggtacagacattatc
aggataatggagcaacaattgtgggtggcccctgctgggtttccagaactttctcaaaggtggacagcttcttgctcagc
agaaggtctatggcctggctgagacaggccaagatggcttgagcaaatagccaacatcctgcccttag
GAAATCACTACA
TCCTGAATGGCAACAAGTTCTGGATCACTAATGGCCCTGATGCTGACGTCCTGATTGTCTATGCCAAGACAGATCTGGCT
GCTGTGCCAGCTTCTCGGGGCATCACAGCCTTCATTGTGGAGAAG
gtgagtataggtgggtgcagggccaggaggcttct
gcctcctgacagtggtaccagagatagcccgttcactgatctcaaatggaatcagtgttgtgtgctctgcaaggccccca
gaggtgggggtgaggcagagagcagactgcaaggagggtgaccaaaagtccaggaagtccagggcagatgggtcacttct
gaagacggtggagccgtcctcagcgccaggccacacaaagaggtctagaaaggggaggactaaaaggaggtcaggacatg
acggtcagggtaccattggtggatctgatgaatgtggccatgggagactgaggtgtgggtgggatgcaagtggagactgc
ccctgcaacagccttgacaacagaagcaagaaggaagcagagcaggagttccaatgaaaagttaggagtttgggtttgtt
tttagaaatgagagaactgagcagattttttggtcagaaggaaaaaaaagggaagaaaaaagaaaatagagggagaaatt
gaaaagtgtgggaatgagtgggcagaacacaatggtgagctggggcagaagagagaaggatgggttacaggtgatggtgc
aggaaccacttgcctaacgatcatgaggaggaagccaggggccctgtgaaggctggggccacgagtgggggagttggcaa
gagtttcatgagcgagtattgtaaaggtttgcggtaccctccatagagagggggaaagtagctgtctagggttggagcag
tagggacctggctgagattggaaatctcaaggttgcgtgatgccaccctcattacaggctgaaggcagcatgtgccagca
ctttgctggtcacttgccaaaacatgctgcaacccagtagtccaggtcaaagtacagagggctcagttcagccctagtgg
gatccctttgggtacagacaggagaacaacagaggataagggaattgaccgggctggtgacagtgtcttggaagtaatgt
cccctgggggagggaaataaggccaggggggtcgggagggctcagggaactgagcatatcattgagaaagaagtgtcccc
atgagaactggggagaacacaagctagtggcagaggaggctgggatcaatctggggcgttagcaccggaaggtcccgggg
ggagcatgggactaggatgctgccatgctgtgcaggtacagggactcaataggaaggtgagtgccttcttcccagaggcc
tttcctttaccaggcccccttggggctaatctgtaaccaggaccaccttttgtttcctgtaaag
GGTATGCCTGGCTTTA
GCACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTAACACCTGTGAGCTAATCTTTGAAGACTGCAAGATTCCT
G
gtaagtagcaccgggaatcggggagcccctctcctgacccccttccaggctgatctggctgttctcaagttgagaaagc
ctctgggttagagaggcttggcattgttagcgcttcagtgacatgtggctaggctgtgagctggggctgctggacagcgc
tccttcctggccagggccctgcagcggcatgcctaactggcatcacacactccgcatagggtctgtactcagtagccgga
ggagaagggtcagacctaccctttcccattgatgtccttcagtcttcctgtactttcgcccatccactgcatgtgagtaa
ctcattaactcacgtttttgtaaaatattttaaaaatgagttattcatttttagcattaatgatgctaagaaaaaaaaac
aaaacatctgaatccactgatggaatcccgactcagtagagagaaggcagttctgcttgagtatgagtattttctcccct
gaggtgtaactgaaatctgacatggtggagcactgtgggagagccagcacagccatcatgtactaaccagaccaggggca
tggatttgttgtttggggtttttttttgttttttttgtttgtttgtttgtttgtttgttttgagaaggagtcttggctct
gtcacccaggctagagtgcagtggcgtgatctcagctcacggcagcctccacctcctgggttccagtgattctcctgcct
cagcctcccgagtagctgggattacaggcatgcgccaccctgcccagctaaattttttgtttgtttttttgagatggagt
gtcgctcttgttgcccagggctggagtgcaatggcgcgatcttggcttactgcaacctccgccccctgggttcaagtgat
tctcctgtctcagccttctgagtagctgggatgacaggcacacaccgcccagctaattttgtatttttagtagagacaga
tggggtttcaccatgttggccaggctgctctcgaactcctgacctcaggtgatccacctgtctcagcctcccaaagtgcc
aggattataggcctgagccaccttgcctggccaggggcatggatttgatcaacagttaggtttgctgtctgcctcagcca
tataccacgcctatcactgacagcccaaaaaagtgtactttaattacagggagcatccagggagggggagctgtgcagct
ccttctttgttgacaggaaaaaattcagctagcattaaaggcaggtcagtagtgtcaacctgttttcctgcccacacctc
ccaaggccatccagtctcctggctttactgggtggagaggtgctcagcagcttctgtcactagctctgaatggcctgtct
cctggacaaagaagctttcacggactactctgcagggaggtgacattggaccagagctgactccacctgggggaaagagt
aattctctggtttctttataggtgcctgtgtagaaagagtcagggagggattgggtgacttctagaccaattaacttttc
ttctttcccatccaagggagtccagagagggaagggaaagatctaacaactctagcctttgtggttggcctcgtggatgg
ggtgggagtcctggcagctccacttctgactggaaggggttcacttgatccttttctttcacctggaaccttagttgaat
aaaggtcaagtgacatattttagtgccttacttgagagccatgtttccaaatctagtacctttgataaaagtgaggaggc
tgtggacagctctctccctctgaccagcacttatcctggcag
CTGCCAACATCCTGGGCCATGAGAATAAGGGTGTCTAC
GTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTGGCCGGGGGGCCTCTTGG
gtaagtgtgagaggcttgagggaa
gctgggctctgtcggcctcctcggcaggtgacccaccatgagcagcagcagccttccccttgcggggccaaagggagctg
cctcttggccctgctctctcctgggagatgaaaggaacctcctcttcccatgttgaatttcttcccacagtggggaaata
tcattaagtaacagacaaaaggcctgaggagcagggtggcttactcggctgtgaaacgacacctgggctgtcacgcccct
gcacctctggccagtcagtgccgtaactgtggcaagactttctgaagttgcttttctcctccctgggattctggccttcc
cacgctagcattttgccaccacacccggtggtgggatgaggaggtgcccacggggcctttctcctttctgacag
GCTCAT
GCAAGCGGTCCTGGACCACACCATTCCCTACCTGCACGTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAG
gtga
gccgagtgcttttgctgacatgtactcttcaactgggctaaagttttctttgaaaagagaggaagtgaggtgggcaccgt
ggatggttactgtctcctctagcaaattgagcttgactgcttggaatgcagtcttcctcagcatgcagcctgactctgga
agtcatcaggaagttcaccacattgccacctcgattcctgtgtgaggtggatgaactagacattgtaaggttggagagca
aagcgtgcaagttgtgggggcagaagggaaagaggttgctatttgtagttagaccttctggtccgaagaagctgctggaa
ggtaataagcattggagtaaatggtgccttgggagccatgcctttcggaggcagtgatggccacttcggggtgtcatgcg
ggctgtggaacagccactctgtggccctaactcccacacctgcccccatctccatcatcctgagtaaatcccatctcctc
tccatgcccctgcttcctcatccttggctgtcttgttgccattgctgacctgcttttggtaactgagagagtgttccagc
atgttgacctgtgacatccctttgtgcccag
TTGATGCAGGGGAAGATGGCTGACATGTACACCCGCCTCATGGCGTGTC
GGCAGTATGTCTACAATGTCGCCAAGGCCTGCGATGAGGGCCATTGCACTGCTAAG
gtgagggccagcctcagtcgggga
gaggcgggggcagtggaccagctgctgagacttgctgtctgcgtgcctcgcagggccctgctgaccccagcttcctcccg
tag
GACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGgtga
gtgatccccacttcccagtcccggggctccctcactcctggggcctgtggctgcttcagaaagcagtttcagggcgggcg
tggtggctcacacctataatcccagcactttgggaggccgaggtaggcagatcacctgaggtcaggagttcaagaccagc
ctggccaacatggtgaaaccgcatgccgggcatgatggtgcatgcctgtaatcccagctacttgggaggctgaggcagga
gaatcgcttgaacccgggaggcagaggttgcagtgaacaaagattgcaccattgcactccagcctaggtgacagagcgag
aggctgtctcaaaaaaaagcaatttcctctccacttctccactcctcactatgtgcttatgctaggcccagctgagctgg
gaccttcgggctctttctgtcccagttacaaggaggaaatggaaagcaaatgagaaaactgctagatgccaggagttgct
gctgccttcggcaacacccccctctcatcctccccgcctcatagatgctaggaaatgggaaagggagatgtggctgggca
cagtggctcacacctgtaattccaacactttaggagactgaggccagtgaatcacctgagatcaggagtttgagaccagc
ctggccaacatggtgaaaccctgtttctactaaaaatacaaaaaaaaattagccaagtgtggtggcaggagcctgtaatc
ccagctatttggaaggctgaggctggagaatctcttgaacccaggaggcggaggttgcagtgaccggagatcgcgccatt
gcactccagcctgagtgacaagagtgaaactccgtctcggaaaaaaaaaaaaaaaaaaaggccgggcacggtggctcaca
cctgtaatcccagcactttgggaggccgaggcaggtggatcacctgaggtcaggagttcgagaccagcctgaccaacgtg
gtgaaaccccatctctactaaaaatacaaaaattagctgggtgcagtggtgcgcgcctgtaatcccagctactcaggagg
ctgaggcaggagaatcacttgaaccttggatgcggaggttgcagagagccaatatcatgccactgcactccagcctaggc
cacagagcatgactccaaaaaaaaaaaaaaaaaagctaaatggaaatttctagaaatagttcataagtttcaaatccaca
ccatcctgaatagcttgaagtgttgtgccatgctgctctgtcatgtttggtacgtgaatcgtccctttgtgcagcctatc
tatgctatgtgggctacctgcccgttagtagtcacctagggtatccaatcagctgtcctgatatcagagtgcctgtgttc
aagtaactcttattttgctcagtggccccagattgcaagagtagtgatgctggcatgtcataatagttctattttagtat
ttgttattattgttgatctgttactatgcctagctcataaattaaactttctcataagtatgtatgtatagggaaaaaaa
caacatatatatggggttcggtactatctacggtttcaggcatccactggggtcttggaatgtatcctccaaggataagg
aaggactagtgtattccccacacccctccctcttgctaccttttgctgcttttctttaatcaccctctcctcctgtggcc
tgtttctatatacttggcattctgtttgctttctttgttttgtcaatcacttcctttcttctctgcccaaaccctggttg
cag
GTGGCAATGGCTACATCAATGACTTTCCCATGGGCCGCTTTCTTCGAGATGCCAAGCTGTATGAGATAGGGGCTGGG
ACCAGCGAGGTGAGGCGGCTGGTCATCGGCAGAGCCTTCAATGCAGACTTTCACTAGTCCTGAGACCCTTCGCCCCCTTT
TCCTGCACCTAGTGGCCTTTCTTGGGAAGTAGAGATGTGGCGGCTTTCCCACCCTGCCCACAGCAGGCCCTCCTGCCCAG
CTGCTCTTGTCAGCCCTCTGGCCTCTGGATGAGGTTGAGTTCTCCACAACAGCTCCCAAGCATCATGGGCCTCGCAGCCG
GGCCTGTGCCACGGCTAGTGTTGTGTGATTTAAAATGGACTCAGCAGGAAGCATATTGTCTGGGGATTGTTGGGACAGGT
TTTGGTGACTCTGTGCCCTTGCTCTCTAACTTCTGAGCCCACCTCCCAGGGTAGGCACCTGGGGGCATGCAGGTGCCCAC
CTCCCAGGGTAGGCACCTGGGGGCATGCAGGTACCCACCTCTTTCTCTTGGGTGAGGCTCTGGCAAGGAGATCTCTCTGC
TCAAGCACAGCAGAATCATGGCCCCTCTCCATGAATTGGAACTTGGTACAGGTTAAGTATCCCTAATCCTGAAATCTGAA
ACACTTGTGGTTCCAAGCATTTTGGATAAGGCAAATTCAACTTTCAGTCTCTTTTCTGGGGGAAAAAAATAATAAACCTA
GCCTAGCCAGGCGTGGTG


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