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rdmorin edited this page Apr 25, 2024 · 17 revisions

[IGLL5]

Mutation tier

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 2 relevance in DLBCL not firmly established
FL 2 relevance in FL not firmly established

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 26.33
BL Thomas cohort 25.00
BL Panea cohort 23.80
DLBCL GAMBL genomes 41.49
DLBCL Schmitz cohort 36.00
DLBCL Reddy cohort 16.10
DLBCL Chapuy cohort 9.00
FL GAMBL genomes 35.33

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes Yes 7.850 3.210
DLBCL Yes Yes 3.376 5.315
FL Yes Yes 4.830 9.846

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr22 23229554 23232042 TSS NA

IGLL5 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr22 23230340 A>T H36L
chr22 23230341 T>A H36Q
chr22 23230343 G>A G37D
chr22 23230346 T>C L38P
chr22 23230346 T>G L38R
chr22 23230348 C>A L39M
chr22 23230348 C>G L39V
chr22 23230348 CT>GC L39A
chr22 23230349 T>A L39Q
chr22 23230349 T>C L39P
chr22 23230351 C>T R40C
chr22 23230357 A>C M42L
chr22 23230357 A>G M42V
chr22 23230357 A>T M42L
chr22 23230358 T>A M42K
chr22 23230358 T>C M42T
chr22 23230359 G>A M42I
chr22 23230359 G>C M42I
chr22 23230359 GG>AC MV42IL
chr22 23230360 G>A V43I
chr22 23230360 G>C V43L
chr22 23230360 G>T V43F
chr22 23230361 T>C V43A
chr22 23230361 T>G V43G
chr22 23230361 TT>AG V43E
chr22 23230361 TT>CC V43A
chr22 23230363 G>A A44T
chr22 23230363 G>T A44S
chr22 23230363 GC>AT A44I
chr22 23230364 C>A A44E
chr22 23230364 C>G A44G
chr22 23230364 C>T A44V
chr22 23230365 AC>GT P45S
chr22 23230366 C>A P45T
chr22 23230366 C>G P45A
chr22 23230366 C>T P45S
chr22 23230367 C>T P45L
chr22 23230369 C>G Q46E
chr22 23230370 A>G Q46R
chr22 23230370 A>T Q46L
chr22 23230372 A>C S47R
chr22 23230372 A>T S47C
chr22 23230373 G>A S47N
chr22 23230373 G>C S47T
chr22 23230374 C>G S47R
chr22 23230376 G>A G48E
chr22 23230379 A>C D49A
chr22 23230379 A>G D49G
chr22 23230381 C>A P50T
chr22 23230381 C>G P50A
chr22 23230381 C>T P50S
chr22 23230382 C>G P50R
chr22 23230382 C>T P50L
chr22 23230385 A>C D51A
chr22 23230386 C>A D51E
chr22 23230386 CC>AA DP51ET
chr22 23230387 C>A P52T
chr22 23230387 C>T P52S
chr22 23230388 C>T P52L
chr22 23230390 G>A G53R
chr22 23230391 G>A G53E
chr22 23230393 G>A A54T
chr22 23230393 G>C A54P
chr22 23230394 C>A A54D
chr22 23230394 C>G A54G
chr22 23230394 C>T A54V
chr22 23230396 T>C S55P
chr22 23230397 C>A S55*
chr22 23230399 G>A V56I
chr22 23230399 G>C V56L
chr22 23230399 G>T V56F
chr22 23230399 GT>CC V56P
chr22 23230400 T>C V56A
chr22 23230400 T>G V56G
chr22 23230402 G>A G57R
chr22 23230402 G>T G57*
chr22 23230403 G>A G57E
chr22 23230403 G>C G57A
chr22 23230405 A>G S58G
chr22 23230405 A>T S58C
chr22 23230405 AG>GA S58D
chr22 23230406 G>A S58N
chr22 23230407 C>G S58R
chr22 23230408 A>C S59R
chr22 23230408 A>G S59G
chr22 23230409 G>C S59T
chr22 23230409 G>T S59I
chr22 23230410 C>G S59R
chr22 23230414 T>C S61P
chr22 23230414 T>G S61A
chr22 23230415 C>G S61C
chr22 23230415 C>T S61F
chr22 23230418 G>A S62N
chr22 23230418 G>C S62T
chr22 23230419 C>A S62R
chr22 23230419 C>G S62R
chr22 23230420 C>G L63V
chr22 23230421 T>A L63Q
chr22 23230426 A>G S65G
chr22 23230427 G>A S65N
chr22 23230427 G>C S65T
chr22 23230428 C>A S65R
chr22 23230428 C>G S65R
chr22 23230430 T>A L66Q
chr22 23230430 T>G L66R
chr22 23230432 T>C W67R
chr22 23230432 T>G W67G
chr22 23230434 G>A W67*
chr22 23230435 GGC>AAT G68N
chr22 23230436 G>A G68D
chr22 23230436 G>C G68A
chr22 23230436 G>T G68V
chr22 23230437 C>T G68=
chr22 23230438 A>C R69=
chr22 23230438 A>G R69G
chr22 23230439 G>A R69K
chr22 23230439 G>C R69T
chr22 23235887 C>T L72F
chr22 23235906 G>C R78T
chr22 23235921 G>A C83Y

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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