HsaINT0049416 @ hg19
Intron Retention
Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57348522-57356511:-
Coord C1 exon
chr3:57356371-57356511
Coord A exon
chr3:57348660-57356370
Coord C2 exon
chr3:57348522-57348659
Length
7711 bp
Sequences
Splice sites
5' ss Seq
CTGGTAATA
5' ss Score
4.88
3' ss Seq
ATGTACTTTTTATATTAAAGGCC
3' ss Score
6.29
Exon sequences
Seq C1 exon
TTCCCAGTAACAATTCTACAGAATGGAGTAAAAATGACTAATGAACCTCCCACGGGTCTTCGGCTGAATCTCCTTCAATCATATCTCACTGATCCAGTTTCTGATCCTGAGTTTTTCAAGGGATGCCGTGGAAAGGAACTG
Seq A exon
GTAATATTCATCTTTTGGAACTTTTAAAATGTGTTTTATAGTGATCAAATATGGAAGTGTAAAATTTTGTTTAATAATGCTTTTGTAACATTTTTATTTAATGTTTTTAAAACTTTACGCATTTCCTAACAAGACAAAAATTGTACTTATCTTGTTCACCATTTTATTCAATATAGTTTGTGTTCCACTTCCCACACAGTAGACATCGAAATAAATATTTGTTGAATGAATGAATCTTAGTTTGTAAGCCAAAGCCCAGTAATGTTTTTGATTAGGACCCGAGAGTAGAAATCTATTTTCCCATTGTTGATTCTTTTTCAACAAGTATGTGTGCCAGGCCCTCTCCTAGGTAGTGTAGATATAAAGCAATGAGAACAAAATAGACAGACAAAGAAATCTGCCTTTATGAAACTTAGATTCTAGTAATAATGTTAAGCATATTAATAGTGCTTTTTCGTATATCCACCTTAAACAGTTTTGTTTACAGTACTGGAGACTTTAAGGGTCCCAGTAGAGAGTACTCATTTCCCTGCCTGAATTCTTACCAATTGAGAAACAGGGAAAAGTATAAATGTATGGTAACCAAATTATAGGCTTAATTATTGATATAGGCTAGATTGGAAGATATAGCTTATATCTGTGAACAAATGGGTTTCATATTACTGAGCCCTAAAATTAAGCAAATTTATCCACCCAGAAGAGTAAAGGAAAACCCAGGTCCCTGTAAGAAGCTCACTTCTAAGAAAGAAAAGGGAGAAGCTGGGCTGAGCATATCTGGTTAATTTTCCCCAAGTTTACCAGTCCGGTAGGTCACTCCTCTCTCCTGCAGCAAGTGAGTACAAGAATGGAGAAAAGTCCAGCGTGTTACATTATTAATTGGGCACATGAAACATTACTGTGAGAAAATCATCCCCTGCCCTCACCCCAACATGTACTATTTATCATATTTTCATGTTTGAGCTAGAAAAAATGATATTGAAGGTAAAATTAACTAAATTCTTTGAAAGTCAGGTATTTTCCCTCTGCTTAATGACACTTTCTGTGTACCCTAGTTCTGCGCCATAATTTTGTTTGCAAATCTTAGAACAAGAGAGGATATTTTGTGGTTTTATTTAGAAAGAGAGCTTAGTAGAATGGAGAAGATAGTATGGTGTCTAATCCTCATCCAGAGTTTGAGCTCCTGCAATTAGAAGAGCGAGGGCAAGAAAGAGAAGGGAAATTTTGAAAGATTCTAAGCTCAAGCAGAGCTAATTTGGGACTCAGATTATTCAAATAAAAATGGTGCTGAGTTAGAGAAGAAGCATTCTCACTCCTTGGGTATTACAACATTGAGCAAGCTACGCTGGCACCGTAAGTATTGGGATTTGTTGGGATATCTGAAGTTAGTATCCTTGCCATGTATCATCATTTTTGTGATGAACAGTGGTAATAGGTAAGGCTTCACCAAGCAACTTCTCTGGTAGTACAAACAAATGAAAGCTGGGGTAAGAGAAGTAAAAGAATGTAAATGCCCTGTGACATGGGTTCTCAGTATGCATCCGATTCCCCTAGAGGGCTTGTTCAAACACATCTTGCTGGGTCCCATCCCCAGAGTCTCTAATTCAGTGGGTCTGGGGTGAGGCTTAAGAATTTATAGTTCTAACAAATTCCCTGGTGATGTTGATGTGGCTGGTTCTGGAATCACACTTTGAAAACCATTGCCTTCCAGTTTCTGCAGGTGTGACTGGTTTGTAGACATATTGAAATTCCACTGAGGCTTCCAGAAATAGCTGGAATGCCTTTCGATAAGGCTAATTTCTGACAATTAGGCCAGCAATAATTTGAACTATCATCATTTGGCCATTAAAAGTAAATAAGATCTTTTTAGTCACAGGTTGTTGATATCTTGGGCGTTTGAATTACCTAGCAATGATAAGACATTCGTTATGAGTCTATAGATCTGCCTGCTGTACTCACTTTATTCTCCTTAAGGGCAGGGATACATTTCTGTATCTTCACTTATTTATTTAGTAAATATTTATTGAGTACCTACTAGGTGCAAGACATTCTTATAGGAACTGGTAATATGGCAATGAACATATATAAAAACATGTAAAAATTTCCTGTCTTTATGGAGCTGACATTTTAGTCAAAGGAAACCTGTGGAAAGCAAGCTCAACCATAATCCCCACAAACCTGGGGGACTTGTTAAAGCTACAGATGTCAGTGCCCTACTTCTGGAATTCTGATTCACTAAATTTGAAGTAAGGCTCAAGAACAAGCATAAATATAGCATATCATATATATACACCATGGCCAAGTGGGATTTATCCCCTGGGATGCTAAAATGATTCAACTTATAAAAATCAATTAATGTAATACACATTAACAGAAGAAAGATAAAAATCACATGATCATCTCACTAGATGCAGAAAAAGCATCCAACAAAATTCAACACTTTTTTATAATATAAACTCTCAGCTGGGCATGGTGGCTCATGCCTGTAATCCTGTCACTTTGGGAGACTGAGGTAGGAGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCTGTCTCTACTAAAAATACAAAAAAAAAAAAAATTAGCAAGGTGTGGTGGCATGTGGCTATAATCCCAGTTACTCAGGAAGAGGCAGGAGAATTGCTTGAGCCTGTGAGGTGGAGGGTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAGGAAGAAACAAAACAAAACCAAAAAACAACTCTTAACAAACGAGGAATAGAAGAAAATTACCTCAACATAATAAAAGCCAATATGAAAATACCACAACTTATATTATACTCAACCATGGAAAAACTGAAAATTTTTCCTGTAAGATCAGAAAGAAGGCATGGAAGCCCACTCCTTCTACTTCTGTTCAACATAGACTGGAAGTCCTAGACTGAACAATTAGGCAAGAAAAAGAAACAGGAGGCATCCAAATCAAACCAGAAGAAGTAAAATTGTCCTTGTTTGCAGATGATGTGATCTTATGTATATAGAAAACCACAAAACTCCACACAAGAAAAACCTGTCAGAGCTAATCAATGAATTCAGTAAAGTTTAGGGTACAAAATCAACATATAAAAATTAGTTGCATTTCTGTACACCAACAACAAACTATCTGAAATGGAAATTAGGAAAACAATCCCATTTATAATAGTACCAAAAACAATAAAATACTTAGGAATAAATTCAACTGAGGAGGTGAAAGATATATACACTGAAAACTACAAAACATTGATGCAATAAGTTAAAGAAGACATGAACATGGAAAAATATCCCATGTTCATGGATTGGAAGACTTAAATTATTAAAATGTGCAAACTAACCAAAGTGATCTACAGATTTAATTTAGCAATCCCTATCAAAATCCCAATCTTAAAAACTCTAAAATTCATATAGAACCACAAAAGATCTTAAATGGCCAAACCAATGTTGAGAAAAAACAAAGCTAGAGGCTTTGTTCTCTGAAATCAGGCTACTTCCTGATTTCAAAATATAATACAAAGCTACAGTGATTAAAACAATATGGTACAGGTTAAGTATTCCTTATCTGGAATGCTTGGGATTTTTTTTTTTAATTTTGGAATATTTGCATTATACTTACCAGTTAACATTCCAAATACAAAAATACAAAACCTGAAATGCTCTAATGAGCATTTCCTTTGAGCATCATGTTGGTACTCAAAAAGTTTTGGATTTTGGAGCATTTTGGATTTTGGGTTTTGGGGTTTAGGATGCTCAACCTGTACTAGTATAAAGTCAGACATACAGACCAGAGGAAAAGAATAGAGAGCTCAGAAATCAATCTACACATATAAGGTCAACTGATCTTTGACAAAGGTGCCAAGAATATACAATGGGAGAAGTATAGTCTCTTCAACAACTGGTATTGAGAAAACTGCATATCCACATGCAAAAGAATGAAATTTAACTCCTATCTTACACTATACATAAAAATCAACTCAAAATGGATTAAAGACTTACATGTAAGATTTGAAACTGTAAAACTTACGGAAGAACACTTAGAAGGAAAGCTTCACGACATTGATCTTAGCAATAATTTCATAGATATGACACCAAAACACAGGCAACAAAAAGAAAGTGGGATCAAACCAAACTAAAAAGCTTCTGCACAGCAAAGGAAATGATCAACAAAGTGAAAAGCCAACCTAAGGAATGGGAGAAATTATTTGCAAACCATATATTAGATAAGGAGTTAATTTCCAAAATATATATGGAACACCTCAATAACAACAACAGAAAACAAAGAATAACCAGATTAAAAATGGGCTAAAGGTTTGAATAGACATTTCTCCAAAGAAGACATACAAATGGCCAACAGATATATGAAAAAATGCTCAATGTCAGTAGTCAGCAGGGAAATGCAAATCAAAACCACAATGAGATATCATCTCATACCTTCTGGGATGGCTATTTTCAAAAAAACAAAAACCAGCATGTATTAGCAAGGACAAAATTGGAGCCCTCATACACTGTTGGTGGTAATGCAAAGTGGTGCAGCCATTAAGGAAAACAGTATGGAGACTCTCAAAAAATTAAAAACAGAACATATGATCCAGCAGTCTCACTTCTGAGTATCCAAAAAAATTGAAATCAGGATCTCTAAGAGATATTAGCAGGCCAGTGTTCATTGCAGCACCATTCACAATAGCCAGTATGTGGAAACATCCTAAATGCCCATTCGTAGAATATTATTCAGCCTTAAAAAGAAGAAAATACTGCCATATATGACAACATGGATAAAACTTGAAGACATTATCCTAAGTGAACTAAGCCAGTCACAGAAAGAGAAATGCTGTATGATTCCACTTATATAGGGTATCAAAAATAGTCAAACTCATAGAATCAGAAGGTGGTTACCTGGGGCTGTGGGAGGGGGAAATAGGGAGTTGCTTATTAATGGGAATAGTGTCTCAATTATGCAAGGTGAATAAATTCTGGAGATTAGCTGTACAACATTGTCCTTATAGTTAACAATACTGTATTGTACATTTAAAAATTTAAGATGGTAGATTTCATGTTAAATGTTTTACCACAATAAAATGAAAATTATTAAAACATGTATGATGTAAACAAACAAATTTGCATGTTCAACTGCACGCAACAGCCATGATAGTGTTATGAACTAAGGGAGGACAAAGAAAGGAAGGGAGGAAAGGGGCAAACATTTATTGACCACCAGCAGATTTCAGTTAGTTTAAATATATAAGCCTTGCAACAGTCCTCTAATATAGGTATCATTTGCACACATCTATTTGTTAAATAAGGAAACTGAGGCTCAAATGAATTAAATAAATTATTGAGGTCATTGAATTAGTCCGTTCTTACACTGCTATAAAGAAATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAATTGACTTACAATTCCACATGGCTGGGGAAGCCTCGGGAAACTTACAATCATGGTGGAAGGTGAGGGGGAAGCAAGCACCTTCTTCACAAGGCAGCAGGAGAGAGAACAGCAAAGGAAGAACTTCCAAACACTTATAAAACCATCGGATCTCGTGAGAACTCACTATCACAAGAACAGTATGGGGGAAACTGCCCCCATGATTGAGTCACCTCCCTCCCTCAACACGCAGGGATTATAGGTCCCTCCCTTGAAAAGCGGGGATTACAAATTGAGCTGAGATTTAGGTGGGGACACAGAGCCAAACGATATCAGTCGTACAGCTCAGCCCAGTGTTGGAGGTGGGATTTGGCACCCAGGACATCTGACTCTTTCCATTTGTGTGTGATTAACTCTGCTTGGCTGAGTTGAAAAAAAGCTTCATGGAAGAAATGATATTTGAAGTAGGCACAAGAAGTATGTTTAATATGCACAACTATTATGACAAGGTTGTTGAAAGAGCAATAAGGACCTCATTTTGGCTAAACTGGTAGGAAATAAGAATGGGAAGGAATATTGGGTCAAGACTGGAAGTCTTTACATGCCTTGCTAAGGAGTTTGAATGAGTCAACACAAAACAGCATCATGTCATAGAAAACAAACTAAAATGCATACCCTCACTGATGGCAGGTCAGTGGTATCATCTTTAGGCAGAGAAGACAGCATCCTACTGCCCCCTTGGCTTAGTCAAAAACAAGCAAAAAAAAAAAAGGGGAAGGGGTTATTTTTTAAGAAAGTATGTTTTAATGTTTAAAAGTTTTTTAAAGAATATCTAGTTTTTAGAATATCTAGATAACAGGACTGTGGCAAACTACTCTGACGTCCTTTGTCACAGCTCTTCGGTCCATATCTAATTTCAGCCACAATTGTAGAAGATAGTTCTTTGTGAGTTCAGACTCTTCATAGGCTACAGCACCTTATCTCAAGTATGCATCTTTCTGTTTTCTTTCCTCGAGATTTCTCTGATGCAACAGGAGCCTTCTTCGCCTGTAGACACACAAGCATAGACCAAAAATGTGGAGAAATTATCAACCCCAGGGGCAACCTTCAACTATTCAGAGACCACTTGTCCCAGCAGAACTGAGTCCTCATCACAGCAACAACTTCCATAATTCTTCCTGATACTTTTCCTCTTTCTCTGCCTCCCTTTCCCTACTCCTTTCCTGCTTCCTGGGATCACTTCTCCCATACACCCACCTTCACCCGCATCTTTCTCTCAAGGTCTACTTTTGGAGGAACCCAGTCTAGATAGAGTCCAAAGACAGAAACAAATGTGATCATTCAGTTTTCCAGAATTTTAAGGATGGTTCCTGCCTTAAGAAAACCCACTATTTAAAAATATGTAGAAAATACATGTAAATTAGATCATTGCTCTTATTGCTAAAGGTTCTTCCCCTATGAAATGTTTCACCACAGCATTCATCTAGTATGTTTAAAATATGCTTTGATGTACTTAGAACATTTCAAAAACGTATCTACTCAGTAAAGCATAGTGTACTTGCATTTTAATATTGAAGAATAATGTCTACTACTGCATTATATGAAAATAGCTGGATGGATTTTCACTGGATTTGGAGCTATGTTTGAAATATTCTAAATTAAAATACATGCTGTGTATCATACTTGAAATTTACTTGGGGGGGACCTTAAAGACTTGGGCGACCATCCTCTGGAACACTGACACAGATTTCTTGAGAAGCCCATGTGACATGCATATCACAGACACGGGGATGCCACAAAGCAGATCAAATAAACAATGGTTTCAAAAATGATTTTCAAATGGAAAGTCACAAAGTCATGAATGACATATTGGGATTTATTCATATCATAATGGTTAATCATTCCCCTGCACTTACAGTCTCAAGCATATGCCAGCAAGTTTACAGAATAACATTTAAGTATTGAAGTTGTAAATCTCTGCGAGTAATACCAAAGTATTATTAGTCAATACTTTGGTAAAATGATAACGTTTTTGCATTTTAACAAGGCTTAATATTACTATGGTTTGTCCAGATTTGGAGATTTGAATTAAATCATAAGATGAATACTATTTATAGTAAGTATTATTTTAGATAGGATTTTTTTAAAATAGAAGTTTGTAGAGATACGTGATCACAGAATCTTGTGAGAAAGATCATTTATCTATTCCTCTCATTTTACTGATGGAATCTGACCGGAATTTTTTTTCTTGTTATGTACTTTTTATATTAAAG
Seq C2 exon
GCCTGGGAGAAGTTACTGTTTGGAGTTTGTTTTTTTCATGCCCTTGTGCAAGAGAGAAAGAAATTTGGTCCTCTTGGTTGGAATATTCCATATGGATTTAATGAATCTGACTTGCGCATCAGTATCCGACAACTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-DNAH12:NM_178504:50
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0302810=Dynein_heavy=FE(17.2=100),PF0302810=Dynein_heavy=PU(0.7=6.4)
A:
NA
C2:
PF0302810=Dynein_heavy=FE(6.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)