Special

HsaINT0049400 @ hg19

Intron Retention

Gene
ENSG00000174844 | DNAH12
Description
dynein, axonemal, heavy chain 12 [Source:HGNC Symbol;Acc:2943]
Coordinates
chr3:57405094-57407456:-
Coord C1 exon
chr3:57407245-57407456
Coord A exon
chr3:57405246-57407244
Coord C2 exon
chr3:57405094-57405245
Length
1999 bp
Sequences
Splice sites
5' ss Seq
GAGGTATGA
5' ss Score
8.55
3' ss Seq
AAACTTATATTTTCTTGTAGTTG
3' ss Score
6.06
Exon sequences
Seq C1 exon
TTAAATTTTTTCTCCACCAACAGGCTTGCTTTATATTCTCTTTGATTTGGTCGATTGGAGGAAGTTGTGATACAGATGGCCGTCGTGTTTTTGATACTTTCATACGATTAATCATACTGGGAAAAGATGATGAAAACCCAGTGCCAGATTCTGTGGGTAAATGGGAATGCCCATTTGATGAAAAAGGCCTGGTCTATGACTACATGTATGAG
Seq A exon
GTATGACATAAAAAGCTTGTTATGGTAAGATAAAACACAAAGGCTTAGGCCAGCAGACAAAGCTCCTGGGTTTTCATCCTAGAGTTATTTTGACTCCTGCGGTGAGCTTTTTAAGCTCCCTTCTTTTAGTTTCACCTCCCATAACTTATTGGCTGTATAAATAAATTTGCTTTAATAATATTTTTATAATTTCACATTTAAATTAAATTTATTTTTCCATTTTATTAAATAATTCCCCAAAGCATTTTTTAAACAGCAAGTATTTGAATAATTATTTGATTCATACAAATTTTATTTCATCCCCCATAAGATCTAGATAGAGCATTAGTTATAATTTCACTTAAATCTCAAGTTTTATGATAAGGAAGTAAACCTAAAAAGATTAATGGCTAGCAGAGCCAGAACTTGACTCAAGTTCTCCTGACTGACAGTGCAGGACCCTTTCCCCAAAACCATGCTAACACAGAATTTTAAGAATCTGGCCAGAAAGAGAGTTTCATCCTCATTAGCCATAGCGGGAAGTCAATAAAGTAATCTCTAAAAGTGAAAAAAGAGGTGGTAACACAAGCATATTCTTTATTTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATTGTCCAGGCTGGAGTGCGGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCCATTGTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTGATTTTTTGCATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAGTCTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCGGCCCACAAGCATATTCTTTAAGAATCGAAAATAAATACCAAACTATCCAGCTTAGAGAAGGTGAAGGTCTCTAGGAAAGGGAAAGTGACAGTAGGGAAATGCTGTTTTTCTTAACCTTGTAAATCTTTTGACTGTAAAATATGTACATATATAATGTTGATAAAAATAAAAGCTAAAACTTAAAAAAATACAAATATGAATTACTAAAGAAACATTCACCCAAACTTACAAAGTTACCACAATTCAAACATGTAACATATACGTGTACAATTTGCTGGAAAATAGGAAAAGATTGTGAGATTCCAGCCACAGCTCTGGAATCGGGTCTTAGGGGGCTACTTTGGCAGGTATTAAAACTTTTTTTACTTAACAGTGGAAGGGCTGGGGTTCTCCAGGGAGGGGTCAAAACAACCTGCAGAAGAAGATAATGGTTGGGGGTGGAGTGAAGATTGGGAGGCACTCAGGGGTGTCAGGACAGCAGTTATTTAGCCAGTGATTCAGAAGAATTTCAGTATCATAACAATTAATACAGCTATGCTGATATATATCCTGGTTGTTTCAGCCTGGATCAAAATGCCAAAGAGAATAATGTTAGAGAAACAAATATAGTGGTTTTATGTGATATTTTATTTTTAGTTAGATTATTGCCCATTTGTTTTAAAATATAAAAAAGTAAAGCCAAAACCCAGGAAATTGTAACTTGAAGTACATTAGAGTGGCTTTCAAATAAATACTCAATGTATGCAAAAGGACATCTTGAAGGCATTTGGGGAATATTGGAGTGTTAAGAAGACATAAAGGCAAAAGTATCTGAAATGTTAGATATGTTGAATATGTGATAACAAAAGTTACATTATATTTTTCAGGTTATTAAAAATGAAAATTGAAAAAATATATTTTTTAAATTGGTGTTTTCATGAATGCTTATTTTATTAATCTGCTTATGACTTAAAATATGCTATATGTGTTCTTTTATGTGAATGTAATATTTCATTAAAAGGGGGAAGACTTAAGTTTTTAAAAGCTAATATAATAGTATACATGTTGAAAAGAGCCTTTCAGATACAGCAAGTACATGGTTTTAATATTTTAAAACTTATATTTTCTTGTAG
Seq C2 exon
TTGAAAAACAAAGGTCGCTGGGTCCATTGGAATGAATTAATTAAAAATACTAATTTAGGAGATAAACAAATCAAGATTCAAGATATCATAGTCCCTACGATGGACACAATTAGATATACGTTTCTAATGGATTTGAGTATTACCTATGCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000174844-DNAH12:NM_178504:36
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:
NO
A:
NA
C2:
PF127752=AAA_7=PU(11.7=62.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
([2])
Chicken
(galGal3)
ALTERNATIVE
([3])
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCTCCACCAACAGGCTTGC
R:
TTGCATAGGTAATACTCAAATCCATT
Band lengths:
355-2354
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