Special

HsaINT1008046 @ hg38

Intron Retention

Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33189320-33192499:-
Coord C1 exon
chr6:33192159-33192499
Coord A exon
chr6:33189470-33192158
Coord C2 exon
chr6:33189320-33189469
Length
2689 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
ATAATCATGGACTCTCCCAGGTG
3' ss Score
4.8
Exon sequences
Seq C1 exon
TGGGGGCTCTGGGCGCCAGGGTGGCCGGGGACACACAGAAGCGGCAGCCACCGAGGAGGGAGCAGTGCCGGGAGCCCCGACGGCGCCTTGCTGCATGGAGCTGGGCCGCTGACAGCTGTCGCTGCCCGCAGCCTCTGACCTCCCTGGGACCCCGGCGTCTGAGGCTCATAGTCTGCTCCCTGTCTTCTGTCAGCCTCAGGGCATCCAGCGTCTCAGGCCGACCTGGGTCCCTGGGACCCGGCGTTTCGGCTTCTCAGCCATGGAGCGGTGCAGCCGCTGCCATCGCCTCCTCCTCCTCCTACCTCTGGTGCTGGGGCTGAGCGCGGCCCCAGGCTGGGCAG
Seq A exon
GTAAGAGGAGTCCTGATGCCTGGGTCCTCGGAGTCAGGCTGGAGCTCTGAGTGTCTCTGGGAAGGGGCCAGCTGATGCCTGGGGCAGCAGCTTCTGAGTCTAACAAGGAGATTTGGGGCTTCAAGGCTACAGGCTGGAGGGCAGGACACCTGTGTTCCTTGGCATCAGGGTAGGAATCTCTTTGTCCTTGAAGTGACTGGGGGAGGGCAGATAGGGCTGAAAGGTGGAGGACCACTTTAGAGACCCTGAATGGGGATGGATGCTTGTCTTGAGTCCTTGGGAAGAGCTGAAGATGGCCAGGGCCAGCCCGGTCCAGTCATTGCTGGTGTGGGGATGGTAGACGCCAATGTTGATGGGTGAGGCGTGTGTGTCTTATGGCCTTTCTGTCGATATCTCTGGGATAAGGGGTGAGCACCTGTGATTCAGAGCAGAGCCCAGTAAGCCCAGAAAGAAAGGAAGCCTTGACTACCTGTCTCATTGGCCTCCTGGACAGGGTCCCCCTCCCCCTCCCTGTGCCCTCGATGCTGCCACGCAGCTGGCTCTGGGGAGCACTGGGGCTGGCTGCCAACAGGACGGCCCTCCGGACAGGCCAGGATCAGGTGTCTGAGGCCAGAGCCAACTCTTTGCATTCCTGCCTAGCCCCTCCTCCCTCTGGCCAGCCAGGCTCCCCTGGGACCCTGGTGCCCACAACCCTGATCTTTTCCTTCTTTTTCCCAGGACCCAGAATTCCTGGCTTCTAGGAAAGGGGATTTGATGTCAAGGAGGGGGCTGTGAGCACCAGGTCCTCAGCAGGCTGGAAAAAGCCCATTTCTGGAGACACTGAGGGCTGATTTATATTTAACTTGACTATTCAATTCTTCTCTGCTTTAGAGAGAAAATGGTCAGAATGGCAGCACAAAAGATTTAGATTAGATTACAGAAGGAAGAACTTCCAAGATGTGAGGACAGTGAAGCCCAGGGCCAGGAAATTGAGGCGTATGGTGCCTGTAGACTCTAGGAGTCTTTCTTAGGGGGAAGAGGGATCCTCTGGCATGGAGGCAGGGGGATGGCTAAGATGACTGTTTCTTATTTCAGGGGCTGAGTGGGTAGAGATGGGACTTTAGGGAAATGAGTTACTGTAGAATTCCTAAGGTTAGAGAATAAGGCATTTGGGGGGCCAGAGGTAGAGTGGTGGAGGGTAATGGGGCTACCAGTGGAGAGCCTGTGGGGCAGATGAGGCTGGATACAGGGGGGCAAGTATGTGGCCTGGTGTGGGAAGATGGTGGGCGGACCTGTGGGTAGGTTGTCCATATGATCGAATTGTACTCCCTTGGGATTTGGTGGAGGGTGGGGACCTCCGAGGTCTCCTTGGCCTGGGGTCTCTGTGAGTCTCTGTGTCTCTGTCTCACTCACCCTTCGTCTCTCAAAGCGGCCCTTGTGTGTTGGTGTTTGCGGAGCTGCCACACGCGCAGGGGCCAGGCTTAGGTGGGGGTTGGGGGGGAAGGCCGTGGTTTCCCGGCTCCTGGACTCAAAGGGCCTTTTCTCTGCCTGCCCGCCCCACCTCACCCACCCCACCCAGCTCCACTCTCCTGATTGCTCTGGCCTCTGCCCTGCCCCACACTTCTATGAAAGTTTTGCTGGAACTCTCTTTGGGATTTTTCCAATCTGGAGCTGATGGTGTGAAGAGTATGTGTATAGGGGAGCAAGTGAGGGCAAGGTGATCTTTTGTTTTCCAGGGAGTTTGAGCCCTAGGAAGCTGAGTTCTAGTTAGACAGGGCTGGTGGGCTGGATCTTGAATCTTTGGGTCCCAGGTGGTGGGGTTGGTGGGGGTGGTGAGACAGGATTGAGGTTCCAGGTGTGGGGAGCTTGCCTGGGTTCTGGGCAAGCACTCTGATGGGATCCACAGATGTGTGGCTCAGGGCCCTGGACCTGTTCCGGCTCCTCGTGGCAGCTTCAGCCCCTGCCCCCCATTCCTCCACCCCTCCCCAACTCATCTCCTAAACCAGGAGGCACAGACTCCTGGGAGAGCTTTCTTGTATCTTTTTCCTCAGCATGCTCAGGGTTGTTCCCACCCCATCCCCCAAACCTGGGATCTGTAGCTGCTTGAAGCCCCTCTCATAGAGCTGCTTCTCTGATCTCTTCCTCGTGGCCCCCCTGCACCTCCTGTGTCCAGGATGATCGATTGCCCAGATGTTGTTTGTGCTGGAGACGGGACAGATGCCAGAGACCCAGAGAGTGAGAGATATGGAAAGAGAGTGAGAGCGAGGGAGAGAAAAAGATGGACAGAATGTGAGAGAAATGGAGGAAGACAGAAGAGACAGAGACAGAAAGACCAACATAAAGAGACAGAGAGAGTAAGAGAGTGAGAGAGACAGGAGACAGATGAAGAGTTGAGAGAAGTATTCAGAGAGTACAGAGAGAGACAGATTCATAAGCTAAAAGACAAAGAGAGAGCGTAAGAGAGGCAGATGCTAGGAGAGACAGGGGCAGGAGTGTCATGGGGTTGAATGCCAGCTGATGCTGCCCTGCCTCCAGGTACCTTTGCATTTCCCATCCATTCAGGTACTGTTCAGAAGCAAGTGAGGGTGAGGTGACCTTTCCCTTGCAGGGAGTTTGAGCCCTGGAAAGCTGAGTTCTAGATCCCAAATGTCCCCTATTTATGCCCTCCTGAGGGCATGTCCCTTCTCCTGATAATCATGGACTCTCCCAG
Seq C2 exon
GTGCACCCCCTGTGGATGTGCTCCGGGCCCTGAGGTTCCCCTCCCTCCCTGATGGTGTCCGGAGAGCGAAAGGCATCTGTCCAGCTGATGTGGCCTACCGAGTGGCACGACCTGCCCAGCTCAGTGCACCCACTCGCCAGCTTTTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248:ENST00000374708:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
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