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Table 1 Genes in the deleted region

From: Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Gene Name

Description

Transcription Start

SHCBP1

SHC SH2-domain binding protein 1

45,171,968

VPS35

vacuolar sorting protein 35

45,251,089

ORC6L

origin recognition complex subunit 6

45,281,058

MYLK3

myosin light chain kinase 3

45,293,694

GPT2

alanine aminotransferase 2

45,476,602

DNAJA2

DnaJ subfamily A member 2

45,546,774

NETO2

neuropilin- and tolloid-like protein 2

45,672,942

ITFG1

integrin alpha FG-GAP repeat containing 1

45,746,798

PHKB

phosphorylase kinase, beta isoform a

46,052,710

ABCC12

ATP-binding cassette protein C12

46,674,384

ABCC11

ATP-binding cassette protein C11

46,758,322

LONP2

peroxisomal LON protease-like

46,835,711

SIAH1

seven in absentia homolog 1 isoform a

46,951,946

N4BP1

Nedd4 binding protein 1

47,130,137

CBLN1

cerebellin 1 precursor

47,869,711

ZNF423

zinc finger protein 423

48,082,021

TMEM188

transmembrane protein 188

48,616,689

HEATR3

HEAT repeat containing 3

48,657,381

PAPD5

PAP associated domain containing 5

48,745,568

ADCY7

adenylate cyclase 7

48,879,323

BRD7

Bromodomain containing 7

48,910,441

NKD1

naked cuticle homolog 1

49,139,741

SNX20

sorting nexin-20

49,257,711

NOD2

nucleotide-binding oligomerization domain

49,288,550

CYLD

ubiquitin carboxyl-terminal hydrolase CYLD

49,333,461

SALL1

sal-like 1

49,727,386