IGLL5

Table of Contents

Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Mutation pattern and selective pressure estimates
aSHM regions
Expression
History
References

Relevance tier by entity

Entity	Tier	Description
	1	High-confidence BL gene
	1	High-confidence DLBCL gene
	1	High-confidence FL gene
	2	Role of IGLL5 mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	Collection	N	mutated	Incidence	95% CI
DLBCL	GAMBL without Reddy	1,089	327	0.3003	[0.2731,0.3275]
DLBCL	GAMBL with Reddy	2,088	488	0.2337	[0.2156,0.2519]
DLBCL	BC	231	85	0.3680	[0.3058,0.4302]
DLBCL	Dana-Farber	303	28	0.0924	[0.0598,0.125]
DLBCL	NCI	470	169	0.3596	[0.3162,0.403]
DLBCL	Reddy	999	161	0.1612	[0.1384,0.184]
DLBCL	DLBCL_ICGC	85	45	0.5294	[0.4233,0.6355]

pathology	Collection	N	mutated	Incidence	CI
BL	GAMBL without Panea	309	84	0.2484	[0.2013,0.2956]
BL	GAMBL without ICGC/Zhou	320	103	0.3219	[0.2707,0.373]
BL	GAMBL with Panea	410	116	0.2630	[0.2211,0.3048]
BL	BLGSP	219	71	0.3242	[0.2622,0.3862]
BL	Zhou/ICGC	90	13	0.1444	[0.0718,0.2171]
BL	Panea	101	32	0.3168	[0.2261,0.4076]

pathology	Collection	N	mutated	Incidence	CI
FL	GAMBL without Crouch	642	213	0.3318	[0.2954,0.3682]
FL	GAMBL with Crouch	1,189	213	0.1791	[0.1573,0.2009]
FL	BC	379	129	0.3404	[0.2927,0.3881]
FL	Kalmbach	164	56	0.3415	[0.2689,0.414]
FL	Crouch	547	0	0.0002	[0,0.0013]
FL	FL_ICGC	99	28	0.2828	[0.1941,0.3715]

Mutation pattern and selective pressure estimates

Entity	Missense dN/dS	Nonsense dN/dS	Q value
BL	2.2568	0.8786	0e+00
FL	1.0025	1.4467	8e-04
DLBCL	0.6718	0.5647	0e+00

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr22	23229554	23232042	TSS	NA

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Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2019-08-20 : Desch : PMBL 2019-09-26 : Panea : BL 2023-07-26 : Russler : FL

References

Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166.

Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;

Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.