Special

HsaINT0038011 @ hg19

Intron Retention

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75794042-75797463:-
Coord C1 exon
chr6:75797293-75797463
Coord A exon
chr6:75796274-75797292
Coord C2 exon
chr6:75794042-75796273
Length
1019 bp
Sequences
Splice sites
5' ss Seq
CAGGTACGT
5' ss Score
10.65
3' ss Seq
TCATCTTTGACCTGTTTCAGGTT
3' ss Score
9.34
Exon sequences
Seq C1 exon
GTCCACAAGGAGAATCCAGAACAGGTCCACCAGGGTCCACAGGTTCAAGAGGTCCCCCTGGCCCCCCTGGCCGTCCTGGAAACTCAGGTATCCGAGGACCCCCAGGTCCTCCTGGATACTGTGATTCTTCTCAGTGTGCCAGCATCCCATACAACGGGCAAGGCTATCCAG
Seq A exon
GTACGTTGTTGCCATTGTAGGAACCCCAACTCACCTGAAGTAAAGAACTTTACGGAAATGAAGTTCCTTAGGATTGAAGGAAGGCTGATTTGAAGATGTCTTGAAGATAACAACTCTTTCAGTTCTGATTATATAATAATAGTGTTTGCTATCATAGCACACAACATTATTTCACTGTTAGGATTGAATTATTTTCTTTTTTCCCCATGTTTCTGCATTTACCAAATCACATCATAAACCTCCCCTTACTTCTCTTGGGACTTCAAAGCATGCTAGTAATTGACTTTTTTTTTTTCTTTTCCCCAAGATTGGGAACAGGGATTTGTTAAATACAACTGTAAAATGCCAAGAATATGTATTTAAAAATTGTTTTGGGAATCTAATTTATGGGTAAACTATGTAATAATATGGTGTAGACAACTGAACATAGTTAACTGTCCCATACTAGCCATGGAATTAATATTTATAAAATCTGGGACTTAATAATTGTTTTTAAAGGATTTTTAATGAAATTCTAGTGTTTGACAATTGTAGAGGGCAGAAGTCTCCTATACTTGATTTTGTGGGATGTGAGGACTGGGTAGATATGCCAATCTGGAAATAAGATAGTCATGCTGTGGTCAATGGCGACCATTTCATTACTGCACCCTCAAGCATCTTGCAAATTTAAAAAATTATACTGCTGTTTGATATGATTTGCTACTTTCAAATAGTGCATGAGTAGTTGAATATCTAAATATCTATATATCTATATATTTATATGCATAATTACATATGACCAAAAGTAATAACAAATCTTAATGTATATTTCCATGCAACCCATTCAAAAAATTGCAATTTAATTCTTTATAAATTTAAATTACCACCTCCTTATGGGATGTGAGAATAACTAAAAATATATGGATATATATATATATATATATATATACTTTAACCATTACATACGTAGATGGATGTGTATTTATATTTTTTACTTAGTCATTCAACTTTTAAAAACTATCATCTTTGACCTGTTTCAG
Seq C2 exon
GTTCCGGCTAACACATTTTCTAAGTCGCCAGTGCTGCTTACAGTTTGAATACATGAAAATCCTGTTTCTGAGATGTTTGCGCACGTGCTTATTAGGAAATGAGTCTGTATGGAAATCTCACCACAGATAATGGTTAACGAACCGGGTCGACATCACAAAGGAGGGTGGAGACTCTTTTTACTAACTTGAATGAGACAAAAGCAGTGGTGTCAGTTTATAATCCTGATGCATTTCAGTAATAATGTAGAAAAACATTATTTTAAAAAAGTTCCAACACACAGCCATGAGGAGCCTCAGTTTTGAAAGAGGTGCATAATAAAACTACTAACCAGAGGAGTCTATGCCATTTTAAGAAAAACAATTAACCTGGTTAAAGAGAAATGTCTTATGTAAATAATAAACTAATTGTGGCTTGTAAATGATTTGTATGTGATCCTGTCGACTAAAATCACTTAACAATTCTACAATAAGCTTCTGCATCAAAGCCTGCCGCTTGCTCTATGCCGGAATAACACCAAATGGAATCTCCTCATCTCTTGCTTGTTAGCGATGTGTCTGATTCAGGGCATCTGTCTTTTTGTTACTTTTTTGTCCGTGTCCTCTCATTTGGGTTTTGTAACTGCAATTTTCAAACCAAAGTTTAAAATCACCTTTTCTTCCTGTTTTGCTGTAGTCACTGGTGTTCCTCACCCACCAGCTGTAACTCAGTTTGTGTGAGGTACAGCCACAGAAGATGTCATGTACTGTATATTACCTGGTGATAGTTGCTTTTCACCCCCCGAGTTCAGTTTCTAGGAGCCAATGAAACTTCCCCTCACCTCCTCATCTTTCCAAGTTGTTCTTTGAATTGAGGAGTTTGAAGGCATAAACAGTTACTTGGGGATTTGCGAAAATCCTACTTAGTTACTGCGTTTACAGTTCTTTGGCCCAGTCTCTGACCCTTCCCAAGTATTTGTGCAATGATTGTGTTTACTGCTGGATTTTTGAAGGTTTTTTTTTTTAAGAAAGTGCCATTTCATTATTTGATTATCACCAAATTATCTGGAAATAATTGGGACATTGTAACTTATCTATTTATAGTTATGAGATTAAGACTGGAGTGCCATCACCGCGGGTGATGATTTAGCTTTTGCTGTGTGTGTGTGTGTGTGCCTTCCAAATCATGCCATAATTGTAATGTTGAATCGGACAGAGCCTTACGTGCCCGAGGGCGGGGCCTACCTGCCTGAGCGCGAGCCCTTCATCGTGCCGGTGGAGCCCGAGCGGACAGCGGAATACGAGGACTACGGCGCAGACGAGCCTGCAGAGGAGCCTCCTGAGCCCCACCGGCGCTGGCGGCGCGCCCTGCCCCACGGACCCGGGCAGTGAACCAGAGATCACGCGCCGCGCCGCGAGGCTTGGGGGAGGTGTTGAAATTCTCATTTACAGGTCAGATAGAGCAGTGTACGTCTTTTCTGAGGTGTTTCTTCCAGCGTTGCTCATCCAGGAGTACCCTTTCTGATTGTAGAGAACCTTGTTTCTGCAGGAAGCCTAGCTCCAAGCACGCAGTCTGTAGACATTTTTGCCTTTGCCCTTGAAATGCTTGCAAAATACTTTGTTAACAAAAGCTGCAAAGAGAGAACATGCCGTGTGCCTTTAGTTAGCACAGCGGGCAGCCTCAGTGAAACTCTTAGGTTAAGCAGTTAAGTCCTGGAACCCAGAGCTGCTGTGTATTTCGAGCGGGCAGTTTATCTTTTGCTATACTTATTTTCAATTCAATTACACCACGATTCAAATAATTCCCCTCCTAAAACCAAAAAGGAGGGAAACGTCAACTCCATTGCAATTACTTATCTTCCTCTTCTATCTCTGTTATACGCCGGGGCATAGAATGCTCGTATACATCTCTTTAACAACCACAAACCTTAAGCCATGTAGATGAAGTTAGTGCATCAACGGGATACAGTTCCATATTGCCTTAAACCTCCTTGTTTTAGACACACTAACATTTATACCAAATTGCAGATTATTCTGCAGAGAGGGAATTGCATGTTTGTGTTGTATATTTAGTATGAACTTTTTTCAGAATATAATATTTCTTAGTTATCAAAAGTAGTTGGAAAACATTTGCAAGACTATGAACATAGAATTGCTGCTTTTATATTTTAACTGCAGATTGTGAATTTCACTGCCTTATATTATTTATTTCTGAAACAAAAGAGGCATTTTTCAATAAAACTACTGAAAATTTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-COL12A1:NM_004370:65
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(73.7=72.4)
A:
NA
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGCCAGCATCCCATACAAC
R:
GCACCTCTTTCAAAACTGAGGC
Band lengths:
349-1368
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