DHX37

DEAH-box helicase 37, the group of SSU processome|DEAH-box helicases

Basic information

Region (hg38): 12:124946824-124989131

Previous symbols: [ "DDX37" ]

Links

ENSG00000150990 ∙ NCBI:57647 ∙ OMIM:617362 ∙ HGNC:17210 ∙ Uniprot:Q8IY37 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (Limited), mode of inheritance: AR
• 46,XY complete gonadal dysgenesis (Supportive), mode of inheritance: AD
• testicular regression syndrome (Supportive), mode of inheritance: AR
• 46,XY partial gonadal dysgenesis (Supportive), mode of inheritance: AD
• neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (Strong), mode of inheritance: AR
• 46,XY sex reversal 11 (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
46, XY sex reversal 11; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	AD/AR	Cardiovascular; Genitourinary; Oncologic	Among other findings, individuals with Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies have been reported as affected with arrhythmia and other cardiovascular anomalies, and awareness may allow prompt diagnosis and management; In 46, XY sex reversal 11, individuals may be at risk of gonadal neoplasms, and awareness may allow appropriate management	Cardiovascular; Genitourinary; Musculoskeletal; Neurologic	26539891; 31256877; 31287541; 31337883

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHX37 gene.

• not provided (1 variants)
• DHX37-related disorder (1 variants)
• Arginase deficiency (1 variants)
• 46,XY sex reversal 11 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHX37 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	71	16	88
missense	1	6	185	14	15	221
nonsense			1		1	2
start loss						0
frameshift		1	3			4
inframe indel			4	1	1	6
splice donor/acceptor (+/-2bp)		1	2			3
splice region			8	11	9	28
non coding			4	48	20	72
Total	1	8	200	134	53

Highest pathogenic variant AF is 0.0000131

Variants in DHX37

This is a list of pathogenic ClinVar variants found in the DHX37 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-124947817-G-C			Likely benign (Sep 03, 2022)
12-124947834-C-T			Likely benign (Jun 24, 2023)
12-124947836-A-G		DHX37-related disorder	Likely benign (Jan 09, 2024)
12-124947840-C-T			Uncertain significance (Jun 09, 2022)
12-124947849-T-C			Uncertain significance (Aug 04, 2023)
12-124947851-G-C		Inborn genetic diseases	Uncertain significance (Nov 12, 2021)
12-124947869-C-T		Inborn genetic diseases	Uncertain significance (Sep 26, 2022)
12-124947886-G-T			Uncertain significance (Mar 28, 2023)
12-124947898-G-A			Benign (Jan 22, 2024)
12-124948072-G-A			Benign (Jan 26, 2024)
12-124948145-C-G			Likely benign (Feb 20, 2023)
12-124948150-C-A			Benign (Jan 11, 2024)
12-124948159-G-A			Uncertain significance (Jan 08, 2024)
12-124948166-C-T			Likely benign (Aug 17, 2022)
12-124948170-C-A			Uncertain significance (Sep 27, 2022)
12-124948170-C-T		Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies • Inborn genetic diseases	Uncertain significance (Jul 20, 2021)
12-124948171-G-A			Uncertain significance (Jan 01, 2024)
12-124948201-G-A			Likely benign (Sep 30, 2023)
12-124949971-C-T			Likely benign (Jan 12, 2024)
12-124949974-C-A			Likely benign (Apr 14, 2022)
12-124949974-C-T			Likely benign (Aug 30, 2023)
12-124949975-G-A			Likely benign (Nov 08, 2022)
12-124949978-G-A			Likely benign (Apr 23, 2023)
12-124949993-A-G			Uncertain significance (Jan 22, 2024)
12-124949995-G-A		Neurodevelopmental delay;Intellectual disability • Neurodevelopmental disorders	Likely pathogenic (May 30, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHX37	protein_coding	protein_coding	ENST00000308736	27	42298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.993	0.00748	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	594	733	0.810	0.0000502	7384
Missense in Polyphen		160	255.97	0.62507		2386
Synonymous	0.537	314	326	0.962	0.0000249	2378
Loss of Function	5.89	10	58.7	0.170	0.00000301	686

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000896	0.0000879
Middle Eastern	0.000218	0.000217
South Asian	0.000132	0.000131
Other	0.000183	0.000163

dbNSFP

Source: dbNSFP

• Pathway: rRNA processing;Metabolism of RNA;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol (Consensus)

Recessive Scores

• pRec: 0.0993

Intolerance Scores

• loftool: 0.376
• rvis_EVS: -1.05
• rvis_percentile_EVS: 7.64

Haploinsufficiency Scores

• pHI: 0.233
• hipred: Y
• hipred_score: 0.611
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.805

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	Medium
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Dhx37

Zebrafish Information Network

• Gene name: dhx37
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);rRNA processing
• Cellular component: nucleus;nucleoplasm;nucleolus
• Molecular function: RNA binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity