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Gene: NELFB (negative elongation factor complex member B) Homo sapiens

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Symbol:

NELFB

Name:

negative elongation factor complex member B

RGD ID:

1603677

HGNC Page

HGNC:24324

Description:

Predicted to enable RNA binding activity. Involved in negative regulation of transcription elongation by RNA polymerase II. Located in cytoplasm and nucleoplasm. Part of NELF complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

COBRA1; cofactor of BRCA1; DKFZp586B0519; KIAA1182; negative elongation factor B; negative elongation factor protein B; NELF-B; RP13-122B23.3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	137,255,327 - 137,273,542 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	137,255,327 - 137,273,542 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	140,149,779 - 140,167,994 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	139,269,768 - 139,287,815 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	110,665,618 - 110,683,794 (+)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	109,609,072 - 109,627,292 (+)	NCBI		HuRef
CHM1_1	9	140,298,493 - 140,316,577 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	149,492,996 - 149,511,192 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Adams-Oliver Syndrome 5 (IAGP)

autosomal dominant intellectual developmental disorder 8 (IAGP)

developmental and epileptic encephalopathy 14 (IAGP)

epilepsy (IAGP)

Joubert syndrome 1 (IAGP)

Kleefstra syndrome 1 (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Rafiq syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-tribromophenol (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (ISO)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bisphenol AF (EXP)

bisphenol F (ISO)

cadmium dichloride (EXP)

carnosic acid (ISO)

choline (ISO)

coumarin (EXP)

decabromodiphenyl ether (EXP)

Dibutyl phosphate (EXP)

doxorubicin (EXP)

flutamide (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

ivermectin (EXP)

L-methionine (ISO)

paracetamol (ISO)

SB 431542 (EXP)

tamoxifen (EXP)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell population proliferation (IEA,ISS)

negative regulation of DNA-templated transcription (IEA)

negative regulation of stem cell differentiation (IEA,ISS)

negative regulation of transcription elongation by RNA polymerase II (IBA,IDA,IEA,ISS)

stem cell differentiation (IEA,ISS)

Cellular Component

cytoplasm (IDA)

NELF complex (IBA,IDA,IPI)

nucleoplasm (IDA,TAS)

nucleus (IDA,IEA)

Molecular Function

protein binding (IPI)

RNA binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

RNA polymerase II transcription elongation pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Seizure (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Control of transcriptional elongation.	Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10199401	PMID:10574461	PMID:11076863	PMID:11112772	PMID:11230166	PMID:11256614	PMID:11739404	PMID:11940650	PMID:12477932	PMID:12612062	PMID:12676794	PMID:14667819
PMID:14702039	PMID:15185750	PMID:15302935	PMID:15342491	PMID:15489334	PMID:15489336	PMID:15530430	PMID:16344560	PMID:16381901	PMID:16452188	PMID:16838299	PMID:16964243
PMID:17353931	PMID:17442680	PMID:17474147	PMID:17499042	PMID:17659869	PMID:17910036	PMID:18029348	PMID:18071589	PMID:18562274	PMID:19245807	PMID:20195357	PMID:20211142
PMID:20305087	PMID:21153684	PMID:21873635	PMID:21900206	PMID:22863883	PMID:23518577	PMID:24034695	PMID:24097989	PMID:24158816	PMID:24255178	PMID:24636995	PMID:24981860
PMID:25640309	PMID:25921289	PMID:26010750	PMID:26186194	PMID:26344197	PMID:26496610	PMID:27282391	PMID:28112367	PMID:28514442	PMID:28515276	PMID:28533407	PMID:29180619
PMID:29229926	PMID:29509190	PMID:29568061	PMID:29656893	PMID:29676528	PMID:29955894	PMID:30036938	PMID:30196744	PMID:30554943	PMID:31048545	PMID:31280863	PMID:31536960
PMID:32296183	PMID:32416067	PMID:32941674	PMID:33239621	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34373451	PMID:34705606	PMID:35241646	PMID:35256949	PMID:35271311
PMID:35439318	PMID:35509820	PMID:35831314	PMID:35844135	PMID:35944360	PMID:36089195	PMID:36215168	PMID:36543142	PMID:36931259	PMID:37117180	PMID:37536630	PMID:37591184
PMID:37689310	PMID:37827155

Genomics

Comparative Map Data

NELFB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	137,255,327 - 137,273,542 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	137,255,327 - 137,273,542 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	140,149,779 - 140,167,994 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	139,269,768 - 139,287,815 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	110,665,618 - 110,683,794 (+)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	109,609,072 - 109,627,292 (+)	NCBI		HuRef
CHM1_1	9	140,298,493 - 140,316,577 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	149,492,996 - 149,511,192 (+)	NCBI		T2T-CHM13v2.0

Nelfb
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	25,089,724 - 25,101,501 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	25,089,724 - 25,101,501 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	25,199,712 - 25,211,489 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	25,199,712 - 25,211,489 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	25,055,232 - 25,067,009 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	25,021,726 - 25,033,390 (-)	NCBI		MGSCv36	mm8
Celera	2	24,927,483 - 24,939,264 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	17.06	NCBI

Nelfb
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	28,409,045 - 28,425,564 (-)	NCBI		GRCr8
mRatBN7.2	3	8,010,883 - 8,027,403 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	8,010,888 - 8,027,403 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	11,115,610 - 11,132,086 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	19,701,839 - 19,718,315 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	17,891,682 - 17,908,158 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	2,414,448 - 2,431,148 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	2,414,451 - 2,431,148 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	2,395,734 - 2,412,431 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	3,360,222 - 3,376,609 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	3,360,218 - 3,376,563 (-)	NCBI
Celera	3	2,837,727 - 2,854,117 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

Nelfb
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955513	5,248,190 - 5,262,044 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	5,248,190 - 5,261,018 (+)	NCBI	ChiLan1.0	ChiLan1.0

NELFB
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	2,126,248 - 2,144,680 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	2,128,581 - 2,147,028 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	108,314,535 - 108,333,050 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	137,283,264 - 137,301,751 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	137,278,964 - 137,301,751 (+)	Ensembl	panpan1.1		panPan2

NELFB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	48,411,725 - 48,425,044 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	48,408,005 - 48,423,308 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	47,598,208 - 47,608,900 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	49,273,065 - 49,283,756 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	49,206,548 - 49,287,069 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	48,049,494 - 48,060,162 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	48,348,232 - 48,358,986 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	48,395,161 - 48,405,870 (-)	NCBI		UU_Cfam_GSD_1.0

Nelfb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	202,636,347 - 202,648,327 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	726,658 - 738,848 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	726,731 - 738,714 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NELFB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa10.2	1	314,117,252 - 314,125,940 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NELFB
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	914,384 - 933,921 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666058	4,373,307 - 4,392,656 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nelfb
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624760	692,735 - 705,328 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	692,735 - 703,571 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NELFB
37 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000050344]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000050348]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	copy number gain	See cases [RCV000051009]	Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	copy number gain	See cases [RCV000051040]	Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	copy number loss	See cases [RCV000051116]	Chr9:136323974..138124532 [GRCh38] Chr9:139218428..141018984 [GRCh37] Chr9:138338249..140138805 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	copy number loss	See cases [RCV000052936]	Chr9:134428674..138154922 [GRCh38] Chr9:137320520..141049374 [GRCh37] Chr9:136460341..140169195 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	copy number loss	See cases [RCV000052937]	Chr9:135452016..137613738 [GRCh38] Chr9:138343862..140508190 [GRCh37] Chr9:137483683..139628011 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	copy number loss	See cases [RCV000052887]	Chr9:137092629..137375788 [GRCh38] Chr9:139987081..140270240 [GRCh37] Chr9:139106902..139390061 [NCBI36] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	copy number loss	See cases [RCV000052951]	Chr9:137215877..137830604 [GRCh38] Chr9:140110329..140725056 [GRCh37] Chr9:139230150..139844877 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]\|See cases [RCV000052938]	Chr9:136015976..138124532 [GRCh38] Chr9:138907822..141018984 [GRCh37] Chr9:138047643..140138805 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	copy number loss	See cases [RCV000052940]	Chr9:136926575..138114463 [GRCh38] Chr9:139821027..141008915 [GRCh37] Chr9:138940848..140128736 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	copy number loss	See cases [RCV000052941]	Chr9:137215877..138138735 [GRCh38] Chr9:140110329..141033187 [GRCh37] Chr9:139230150..140153008 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3	copy number gain	See cases [RCV000053745]	Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	copy number gain	See cases [RCV000053746]	Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]\|See cases [RCV000053748]	Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	copy number gain	See cases [RCV000053814]	Chr9:134174698..138138735 [GRCh38] Chr9:137091194..141033187 [GRCh37] Chr9:136029641..140153008 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]\|See cases [RCV000053776]	Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
Single allele	deletion	Epilepsy [RCV001293379]	Chr9:139764148..141066491 [GRCh37] Chr9:9q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	copy number gain	See cases [RCV000133791]	Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	copy number gain	See cases [RCV000133778]	Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	copy number gain	See cases [RCV000134916]	Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3	pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	copy number gain	See cases [RCV000134920]	Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	copy number gain	See cases [RCV000136790]	Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	copy number gain	See cases [RCV000137825]	Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	copy number gain	See cases [RCV000138783]	Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000139207]	Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	copy number gain	See cases [RCV000138962]	Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	copy number gain	See cases [RCV000139807]	Chr9:133996227..138124524 [GRCh38] Chr9:136861349..141018976 [GRCh37] Chr9:135851170..140138797 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	copy number gain	See cases [RCV000141876]	Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	copy number gain	See cases [RCV000142955]	Chr9:133918071..138159073 [GRCh38] Chr9:136783193..141053525 [GRCh37] Chr9:135773014..140173346 [NCBI36] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	copy number loss	See cases [RCV000142978]	Chr9:136877772..138124524 [GRCh38] Chr9:139772224..141018976 [GRCh37] Chr9:138892045..140138797 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	copy number gain	See cases [RCV000142636]	Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	copy number gain	See cases [RCV000142744]	Chr9:137092629..137270028 [GRCh38] Chr9:139987081..140164480 [GRCh37] Chr9:139106902..139284301 [NCBI36] Chr9:9q34.3	benign
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	copy number gain	See cases [RCV000143394]	Chr9:135704780..138125937 [GRCh38] Chr9:138596626..141020389 [GRCh37] Chr9:137736447..140140210 [NCBI36] Chr9:9q34.3	likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	copy number gain	See cases [RCV000143476]	Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	copy number loss	See cases [RCV000148284]	Chr9:136323974..138014606 [GRCh38] Chr9:139218428..140909058 [GRCh37] Chr9:138338249..140028879 [NCBI36] Chr9:9q34.3	pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	copy number gain	See cases [RCV000148113]	Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	copy number gain	See cases [RCV000240081]	Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140166981-140201415)x4	copy number gain	not provided [RCV000753244]	Chr9:140166981..140201415 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140167730-140218283)x3	copy number gain	not provided [RCV000753248]	Chr9:140167730..140218283 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	copy number gain	See cases [RCV000449375]	Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	copy number loss	See cases [RCV000446074]	Chr9:138222049..141018925 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	copy number gain	not specified [RCV003986800]	Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	copy number gain	See cases [RCV000447080]	Chr9:128652785..141044751 [GRCh37] Chr9:9q33.3-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1	copy number loss	See cases [RCV000446191]	Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1	copy number loss	See cases [RCV000448743]	Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3	copy number gain	See cases [RCV000448978]	Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	copy number loss	See cases [RCV000510584]	Chr9:138209358..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	copy number gain	See cases [RCV000511188]	Chr9:138275621..141020389 [GRCh37] Chr9:9q34.3	likely pathogenic
NM_015456.5(NELFB):c.917C>A (p.Pro306Gln)	single nucleotide variant	not specified [RCV004302815]	Chr9:137263212 [GRCh38] Chr9:140157664 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.746T>C (p.Val249Ala)	single nucleotide variant	not specified [RCV004318682]	Chr9:137263041 [GRCh38] Chr9:140157493 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	copy number gain	Global developmental delay [RCV000626548]	Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3	likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	copy number gain	See cases [RCV000512392]	Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	copy number loss	mTOR Inhibitor response [RCV000626442]	Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3	drug response
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	copy number gain	not provided [RCV000683160]	Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813392]	Chr9:138557721..141138302 [GRCh37]	pathogenic
GRCh37/hg19 9q34.3(chr9:140094273-140218283)x3	copy number gain	not provided [RCV000753242]	Chr9:140094273..140218283 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140166981-140218283)x3	copy number gain	not provided [RCV000753245]	Chr9:140166981..140218283 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140094273-140167730)x3	copy number gain	not provided [RCV000753240]	Chr9:140094273..140167730 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140094273-140218212)x3	copy number gain	not provided [RCV000753241]	Chr9:140094273..140218212 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140094273-140332474)x3	copy number gain	not provided [RCV000753243]	Chr9:140094273..140332474 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140167730-140201415)x4	copy number gain	not provided [RCV000753247]	Chr9:140167730..140201415 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140166981-140332474)x3	copy number gain	not provided [RCV000753246]	Chr9:140166981..140332474 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9q34.3(chr9:140167877-140201415)x4	copy number gain	not provided [RCV000753249]	Chr9:140167877..140201415 [GRCh37] Chr9:9q34.3	benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3	copy number gain	not provided [RCV000748055]	Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1	copy number loss	not provided [RCV000748787]	Chr9:137816459..141114095 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3	copy number gain	not provided [RCV000748053]	Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3	copy number gain	not provided [RCV000748063]	Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2	copy number gain	not provided [RCV000748054]	Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
NC_000009.11:g.(?_138645763)_(140729425_?)del	deletion	Developmental and epileptic encephalopathy, 14 [RCV001362982]\|Kleefstra syndrome 1 [RCV001031921]	Chr9:138645763..140729425 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	copy number gain	not provided [RCV000845900]	Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3	copy number gain	not provided [RCV000848688]	Chr9:139766260..140186072 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	copy number gain	not provided [RCV000847808]	Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3	copy number gain	not provided [RCV000847406]	Chr9:140064816..140759229 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_139089171)_(141016451_?)del	deletion	Rafiq syndrome [RCV003122293]\|not provided [RCV003105304]	Chr9:139089171..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|no classifications from unflagged records
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813380]	Chr9:139674181..141018648 [GRCh37]	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813382]	Chr9:140033837..141111544 [GRCh37]	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813384]	Chr9:139694299..140792635 [GRCh37]	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813390]	Chr9:139937332..141111829 [GRCh37]	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813388]	Chr9:140141148..141153431 [GRCh37]	pathogenic
Single allele	copy number loss	Kleefstra syndrome 1 [RCV004813391]	Chr9:139559141..141093906 [GRCh37]	pathogenic
NC_000009.12:g.(?_137139467)_(137834973_?)del	deletion	Kleefstra syndrome 1 [RCV001031572]	Chr9:140033919..140729425 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138225001-141015001)	copy number loss	Microcephaly [RCV001252947]	Chr9:138225001..141015001 [GRCh37] Chr9:9q34.3	pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del	deletion	Kleefstra syndrome 1 [RCV001267844]	Chr9:139018777..141018984 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3	copy number gain	not provided [RCV001259536]	Chr9:139776707..140234193 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984)	copy number loss	Cryptorchidism [RCV001352666]	Chr9:139284464..141018984 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	copy number gain	not specified [RCV002053823]	Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)	copy number loss	not specified [RCV002052852]	Chr9:139282807..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)	copy number loss	not specified [RCV002052854]	Chr9:140043049..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:138740078-141020389)	copy number loss	not specified [RCV002052850]	Chr9:138740078..141020389 [GRCh37] Chr9:9q34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139563039-140310033)	copy number loss	not specified [RCV002052853]	Chr9:139563039..140310033 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_139943109)_(140269288_?)dup	duplication	Intellectual disability, autosomal dominant 8 [RCV001996989]	Chr9:139943109..140269288 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_140040158)_(141016451_?)del	deletion	Intellectual disability, autosomal dominant 8 [RCV003109674]\|Kleefstra syndrome 1 [RCV003116549]	Chr9:140040158..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del	deletion	Adams-Oliver syndrome 5 [RCV003119767]\|Developmental and epileptic encephalopathy, 14 [RCV003109684]\|Familial aplasia of the vermis [RCV003119768]	Chr9:138392557..141016451 [GRCh37] Chr9:9q34.3	pathogenic\|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup	duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700]	Chr9:131087402..141016451 [GRCh37] Chr9:9q34.11-34.3	uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup	duplication	Kleefstra syndrome 1 [RCV003122719]	Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3	uncertain significance
NM_015456.5(NELFB):c.506C>T (p.Pro169Leu)	single nucleotide variant	not specified [RCV004115356]	Chr9:137256424 [GRCh38] Chr9:140150876 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1471C>T (p.Arg491Cys)	single nucleotide variant	not specified [RCV004124577]	Chr9:137267328 [GRCh38] Chr9:140161780 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1646A>C (p.His549Pro)	single nucleotide variant	not specified [RCV004133039]	Chr9:137272521 [GRCh38] Chr9:140166973 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1733C>T (p.Thr578Ile)	single nucleotide variant	not specified [RCV004089522]	Chr9:137272608 [GRCh38] Chr9:140167060 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1462G>A (p.Ala488Thr)	single nucleotide variant	not specified [RCV004237264]	Chr9:137267319 [GRCh38] Chr9:140161771 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1669A>G (p.Ile557Val)	single nucleotide variant	not specified [RCV004131827]	Chr9:137272544 [GRCh38] Chr9:140166996 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1153G>A (p.Asp385Asn)	single nucleotide variant	not specified [RCV004195506]	Chr9:137266340 [GRCh38] Chr9:140160792 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1809G>T (p.Lys603Asn)	single nucleotide variant	not specified [RCV004122270]	Chr9:137272850 [GRCh38] Chr9:140167302 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	copy number loss	See cases [RCV002640756]	Chr9:134962336..137240181 [GRCh38] Chr9:9q34.3	pathogenic
NM_015456.5(NELFB):c.1537C>T (p.Leu513Phe)	single nucleotide variant	not specified [RCV004074238]	Chr9:137272128 [GRCh38] Chr9:140166580 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1777G>A (p.Gly593Ser)	single nucleotide variant	not specified [RCV004125622]	Chr9:137272818 [GRCh38] Chr9:140167270 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1376T>G (p.Phe459Cys)	single nucleotide variant	not specified [RCV004122223]	Chr9:137267080 [GRCh38] Chr9:140161532 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.425A>C (p.Glu142Ala)	single nucleotide variant	not specified [RCV004190199]	Chr9:137256343 [GRCh38] Chr9:140150795 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.602A>C (p.Asn201Thr)	single nucleotide variant	not specified [RCV004097691]	Chr9:137256915 [GRCh38] Chr9:140151367 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.956G>C (p.Arg319Pro)	single nucleotide variant	not specified [RCV004133284]	Chr9:137264273 [GRCh38] Chr9:140158725 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1123G>A (p.Gly375Ser)	single nucleotide variant	not specified [RCV004216713]	Chr9:137265959 [GRCh38] Chr9:140160411 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.851C>T (p.Thr284Met)	single nucleotide variant	not specified [RCV004257181]	Chr9:137263146 [GRCh38] Chr9:140157598 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.298G>A (p.Asp100Asn)	single nucleotide variant	not specified [RCV004277728]	Chr9:137255958 [GRCh38] Chr9:140150410 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.833G>A (p.Arg278Gln)	single nucleotide variant	not specified [RCV004292035]	Chr9:137263128 [GRCh38] Chr9:140157580 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1268C>T (p.Pro423Leu)	single nucleotide variant	not specified [RCV004261559]	Chr9:137266972 [GRCh38] Chr9:140161424 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1805G>A (p.Arg602Gln)	single nucleotide variant	not specified [RCV004336067]	Chr9:137272846 [GRCh38] Chr9:140167298 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.631C>A (p.Pro211Thr)	single nucleotide variant	not specified [RCV004361732]	Chr9:137256944 [GRCh38] Chr9:140151396 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	copy number gain	not provided [RCV003484786]	Chr9:136988996..141020389 [GRCh37] Chr9:9q34.2-34.3	pathogenic
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660]	Chr9:139685408..141050580 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761658]	Chr9:139942000..141074000 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761661]	Chr9:139972953..140954193 [GRCh37] Chr9:9q34.3	likely pathogenic
GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	copy number gain	9q34.3 microduplication-related neurodevelopmental disorder [RCV003761662]	Chr9:140014769..140930811 [GRCh37] Chr9:9q34.3	likely pathogenic
NM_015456.5(NELFB):c.1411G>A (p.Glu471Lys)	single nucleotide variant	not specified [RCV004483619]	Chr9:137267268 [GRCh38] Chr9:140161720 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1709C>T (p.Ala570Val)	single nucleotide variant	not specified [RCV004483653]	Chr9:137272584 [GRCh38] Chr9:140167036 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1796T>C (p.Leu599Pro)	single nucleotide variant	not specified [RCV004483665]	Chr9:137272837 [GRCh38] Chr9:140167289 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1817C>T (p.Pro606Leu)	single nucleotide variant	not specified [RCV004483680]	Chr9:137272858 [GRCh38] Chr9:140167310 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.257G>C (p.Gly86Ala)	single nucleotide variant	not specified [RCV004483614]	Chr9:137255917 [GRCh38] Chr9:140150369 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1307A>G (p.Asn436Ser)	single nucleotide variant	not specified [RCV004483616]	Chr9:137267011 [GRCh38] Chr9:140161463 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1690G>C (p.Ala564Pro)	single nucleotide variant	not specified [RCV004483643]	Chr9:137272565 [GRCh38] Chr9:140167017 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.521A>G (p.Lys174Arg)	single nucleotide variant	not specified [RCV004483694]	Chr9:137256834 [GRCh38] Chr9:140151286 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.181G>A (p.Gly61Ser)	single nucleotide variant	not specified [RCV004483700]	Chr9:137255546 [GRCh38] Chr9:140149998 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1016A>G (p.Lys339Arg)	single nucleotide variant	not specified [RCV004483730]	Chr9:137264333 [GRCh38] Chr9:140158785 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1171C>T (p.Arg391Trp)	single nucleotide variant	not specified [RCV004641498]	Chr9:137266358 [GRCh38] Chr9:140160810 [GRCh37] Chr9:9q34.3	uncertain significance
NC_000009.11:g.(?_140127344)_(140164869_?)del	deletion	not provided [RCV004583146]	Chr9:140127344..140164869 [GRCh37] Chr9:9q34.3	pathogenic
NM_015456.5(NELFB):c.1653C>T (p.His551=)	single nucleotide variant	not specified [RCV004641499]	Chr9:137272528 [GRCh38] Chr9:140166980 [GRCh37] Chr9:9q34.3	likely benign
NM_015456.5(NELFB):c.1745G>T (p.Gly582Val)	single nucleotide variant	not specified [RCV004641500]	Chr9:137272786 [GRCh38] Chr9:140167238 [GRCh37] Chr9:9q34.3	uncertain significance
NM_015456.5(NELFB):c.1876G>A (p.Ala626Thr)	single nucleotide variant	not specified [RCV004654760]	Chr9:137272917 [GRCh38] Chr9:140167369 [GRCh37] Chr9:9q34.3	uncertain significance
GRCh38/hg38 9q34.3(chr9:136869696-138172039)	copy number loss	Kleefstra syndrome 1 [RCV004720516]	Chr9:136869696..138172039 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135969078-138104469)	copy number loss	Kleefstra syndrome 1 [RCV004720472]	Chr9:135969078..138104469 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135182209-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720473]	Chr9:135182209..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135338745-138124196)	copy number loss	Kleefstra syndrome 1 [RCV004720539]	Chr9:135338745..138124196 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	copy number loss	Kleefstra syndrome 1 [RCV004720482]	Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720481]	Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137529711-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720486]	Chr9:137529711..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	copy number loss	Kleefstra syndrome 1 [RCV004720487]	Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137272928-137711050)	copy number loss	Kleefstra syndrome 1 [RCV004720490]	Chr9:137272928..137711050 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137106653-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720502]	Chr9:137106653..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136817307-138133487)	copy number loss	Kleefstra syndrome 1 [RCV004720504]	Chr9:136817307..138133487 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136032451-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720514]	Chr9:136032451..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137059436-137902321)	copy number loss	Kleefstra syndrome 1 [RCV004720509]	Chr9:137059436..137902321 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135791488-138262981)	copy number loss	Kleefstra syndrome 1 [RCV004720522]	Chr9:135791488..138262981 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137170000-138360000)	copy number loss	Kleefstra syndrome 1 [RCV004720531]	Chr9:137170000..138360000 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136993278-138200863)	copy number loss	Kleefstra syndrome 1 [RCV004720533]	Chr9:136993278..138200863 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	copy number loss	Kleefstra syndrome 1 [RCV004720477]	Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	copy number loss	Kleefstra syndrome 1 [RCV004720485]	Chr9:137552082..137728529 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137569711-138129711)	copy number loss	Kleefstra syndrome 1 [RCV004720496]	Chr9:137569711..138129711 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136806104-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720497]	Chr9:136806104..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:136684941-138124673)	copy number loss	Kleefstra syndrome 1 [RCV004720523]	Chr9:136684941..138124673 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:137552082-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720495]	Chr9:137552082..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	copy number loss	Kleefstra syndrome 1 [RCV004720478]	Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	copy number loss	Kleefstra syndrome 1 [RCV004720480]	Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135954288-138125938)	copy number loss	Kleefstra syndrome 1 [RCV004720483]	Chr9:135954288..138125938 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135204722-138394717)	copy number loss	Kleefstra syndrome 1 [RCV004720508]	Chr9:135204722..138394717 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135008333-138199729)	copy number loss	Kleefstra syndrome 1 [RCV004720511]	Chr9:135008333..138199729 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	copy number loss	Kleefstra syndrome 1 [RCV004720515]	Chr9:134288333..138155727 [GRCh38] Chr9:9q34.2-34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:135203306-138100471)	copy number loss	Kleefstra syndrome 1 [RCV004720521]	Chr9:135203306..138100471 [GRCh38] Chr9:9q34.3	pathogenic
GRCh38/hg38 9q34.3(chr9:134642187-138121999)	copy number loss	Kleefstra syndrome 1 [RCV004720503]	Chr9:134642187..138121999 [GRCh38] Chr9:9q34.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	375
Count of miRNA genes:	302
Interacting mature miRNAs:	327
Transcripts:	ENST00000343053
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system
1204	2436	2788	2249	4966	1724	2350	5	624	1950	465	2270	7296	6464	53	3728	1	851	1740	1616	173

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_015456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB033008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF464935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022651	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL050280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011892	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX255925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CT003266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA210427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000343053 ⟹ ENSP00000339495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	137,255,327 - 137,273,542 (+)	Ensembl

RefSeq Acc Id:

NM_015456 ⟹ NP_056271

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	137,255,327 - 137,273,542 (+)	NCBI
GRCh37	9	140,149,759 - 140,168,000 (+)	ENTREZGENE
Build 36	9	139,269,768 - 139,287,815 (+)	NCBI Archive
HuRef	9	109,609,072 - 109,627,292 (+)	ENTREZGENE
CHM1_1	9	140,298,486 - 140,316,577 (+)	NCBI
T2T-CHM13v2.0	9	149,492,996 - 149,511,192 (+)	NCBI

Sequence:

show sequence

GGCTGCGGGACGCGCGCGGAGTCGCGCGGCGGGCGGGACCTGGCCGAGCTGGAGGGCGCCGGGG
AGCGGGGCTCGGGCGGTCCCCGAGGCCCGGCGGAGCGGGCTTCTGGGGTGTCTGCGGCGGCGCC
GGGGGAACGGGCTGGGGATGGGGCGCCTAGCCGGGCGGTGGCCGGGGCCTCGGCCATGTTCGCG
GGGCTGCAGGACCTGGGCGTGGCCAACGGCGAGGACCTGAAGGAGACCCTGACCAACTGCACGG
AGCCGCTCAAGGCCATCGAGCAGTTCCAGACAGAGAATGGTGTGCTGCTGCCATCTCTTCAGTC
AGCCCTCCCCTTCTTGGACCTGCACGGGACGCCGCGGCTGGAGTTCCACCAGTCGGTATTCGAT
GAGCTGCGGGACAAGCTGCTGGAGCGAGTGTCAGCCATCGCTTCGGAGGGGAAGGCTGAGGAAA
GGTACAAGAAGCTGGAAGACCTTCTGGAGAAGAGCTTTTCTCTGGTGAAGATGCCGTCCCTGCA
GCCCGTGGTGATGTGCGTCATGAAGCACCTGCCCAAGGTTCCGGAGAAAAAACTGAAGCTGGTT
ATGGCTGACAAGGAGCTGTATCGAGCCTGCGCCGTGGAGGTGAAGCGGCAGATCTGGCAAGACA
ACCAGGCCCTCTTCGGGGACGAGGTTTCCCCACTCCTGAAGCAGTACATCCTGGAGAAGGAGAG
CGCTCTCTTCAGTACAGAGCTCTCTGTCCTGCACAACTTTTTCAGTCCTTCCCCCAAGACCAGG
CGCCAGGGCGAGGTGGTGCAGCGGCTGACGCGGATGGTGGGGAAGAACGTGAAGCTGTACGACA
TGGTGCTGCAGTTTCTGCGCACGCTCTTCCTGCGCACGCGGAATGTGCACTACTGCACGCTGCG
GGCTGAGCTGCTCATGTCCCTGCACGACCTGGACGTGGGTGAAATCTGCACCGTGGACCCGTGC
CACAAGTTCACCTGGTGCCTGGACGCCTGCATCCGAGAGCGGTTCGTGGACAGCAAGAGGGCGC
GGGAGCTGCAGGGGTTTCTCGATGGCGTCAAGAAGGGCCAGGAGCAGGTGCTGGGGGACCTGTC
CATGATCCTGTGTGACCCCTTCGCCATCAACACGCTGGCACTGAGCACAGTCAGGCACCTGCAG
GAGCTGGTCGGCCAGGAGACACTGCCCAGGGACAGCCCCGACCTCCTGCTGCTGCTCCGGCTGC
TGGCGCTGGGCCAGGGAGCCTGGGACATGATCGACAGCCAGGTCTTCAAGGAGCCCAAGATGGA
GGTAGAGCTCATCACCAGGTTCCTCCCGATGCTCATGTCCTTCCTGGTGGATGACTACACTTTC
AATGTGGATCAGAAACTTCCGGCTGAGGAGAAAGCCCCAGTCTCATATCCAAACACACTTCCCG
AAAGCTTCACTAAGTTTCTGCAGGAGCAGCGCATGGCCTGCGAGGTGGGGCTGTACTACGTCCT
GCACATCACCAAGCAGAGGAACAAGAACGCGCTCCTCCGCCTGCTGCCCGGGCTGGTGGAGACC
TTTGGCGACTTGGCCTTTGGCGACATCTTCCTCCACCTGCTCACGGGCAACCTTGCGCTGCTGG
CCGACGAATTTGCCCTTGAGGACTTCTGCAGCAGCCTCTTCGATGGCTTCTTCCTCACCGCCTC
TCCAAGGAAGGAGAACGTGCACCGGCACGCGCTGCGGCTCCTCATTCACCTGCACCCCAGGGTG
GCCCCGTCTAAGCTGGAGGCGTTGCAGAAGGCCCTGGAGCCTACAGGCCAGAGCGGAGAGGCAG
TGAAGGAGCTTTACTCCCAGCTCGGCGAGAAGCTGGAACAGCTGGATCACCGGAAGCCCAGCCC
GGCACAGGCTGCGGAGACGCCGGCCCTGGAGCTGCCCCTCCCCAGCGTGCCCGCCCCTGCCCCG
CTCTGAGGGCCCTCCAGACCTGCTCGGGTGCTGGGGCCATGCCGAGTCGCGGCCCTGCTCAGCC
GGAAGAGGCTCCCGGACCTGGATGTACAGGGCAGTCTCTCTTCCCGGGGCTATGGCTGGGCCTG
TCCTGCCGTCATGGCCCCCTGCTTCCTGCTCCTTGGAGCTGGCTCCCGGACCTTGCCCACCATC
CATGCAGTGGCTCCCAGGGCAGAGCCTCTCCTTGTACTTTGGCAGCCATAGAAAGCGTGCTCAT
TTTCTGTTTTCCTGTGTTAGGAAAAAACCACCTGTTTTCCAAGGGGAGAGGGCGGGGCCTGAGG
GTGGGGGCGGGGCCTCTTCATTGGCCCAGCTTGGCGAAAGCGAGGCACACTGCTTACTGCCTTG
GGGTTGTGGAGATGGACCCGTGACCTCGTGGAGGCCGTGTGGGGGCAGCAGCCTGGCCTGTGCC
ATGGTGGGTGTCCTGGGGCCTGTGCGGAGGGAGCCACCTCACCCTGCAGCCCAGTTTGCAGGTG
TGGCCTTGTTTCTCCTTGCCCAGCAGTGCTGCCTTCAGCGGCCGTGACGGGGCCAGCTGGACAC
ACGGTGAGATTTTCTCGTATGTAAATAAAAGGCATTTTGGTAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_056271	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH11892	(Get FASTA)	NCBI Sequence Viewer
	AAL69965	(Get FASTA)	NCBI Sequence Viewer
	BAA86496	(Get FASTA)	NCBI Sequence Viewer
	BAB14157	(Get FASTA)	NCBI Sequence Viewer
	BAG52272	(Get FASTA)	NCBI Sequence Viewer
	CAB43381	(Get FASTA)	NCBI Sequence Viewer
	EAW88377	(Get FASTA)	NCBI Sequence Viewer
	EAW88378	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000339495
	ENSP00000339495.6
GenBank Protein	Q8WX92	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056271 ⟸ NM_015456

- UniProtKB:

A0A5H1ZRP4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAELEGAGERGSGGPRGPAERASGVSAAAPGERAGDGAPSRAVAGASAMFAGLQDLGVANGEDL
KETLTNCTEPLKAIEQFQTENGVLLPSLQSALPFLDLHGTPRLEFHQSVFDELRDKLLERVSAI
ASEGKAEERYKKLEDLLEKSFSLVKMPSLQPVVMCVMKHLPKVPEKKLKLVMADKELYRACAVE
VKRQIWQDNQALFGDEVSPLLKQYILEKESALFSTELSVLHNFFSPSPKTRRQGEVVQRLTRMV
GKNVKLYDMVLQFLRTLFLRTRNVHYCTLRAELLMSLHDLDVGEICTVDPCHKFTWCLDACIRE
RFVDSKRARELQGFLDGVKKGQEQVLGDLSMILCDPFAINTLALSTVRHLQELVGQETLPRDSP
DLLLLLRLLALGQGAWDMIDSQVFKEPKMEVELITRFLPMLMSFLVDDYTFNVDQKLPAEEKAP
VSYPNTLPESFTKFLQEQRMACEVGLYYVLHITKQRNKNALLRLLPGLVETFGDLAFGDIFLHL
LTGNLALLADEFALEDFCSSLFDGFFLTASPRKENVHRHALRLLIHLHPRVAPSKLEALQKALE
PTGQSGEAVKELYSQLGEKLEQLDHRKPSPAQAAETPALELPLPSVPAPAPL

hide sequence

Ensembl Acc Id:

ENSP00000339495 ⟸ ENST00000343053

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WX92-F1-model_v2	AlphaFold	Q8WX92	1-580	view protein structure

Promoters

RGD ID:

7216799

Promoter ID:

EPDNEW_H14144

Type:

initiation region

Name:

NELFB_2

Description:

negative elongation factor complex member B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14145

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	137,255,217 - 137,255,277	EPDNEW

RGD ID:

7216797

Promoter ID:

EPDNEW_H14145

Type:

initiation region

Name:

NELFB_1

Description:

negative elongation factor complex member B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H14144

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	137,255,327 - 137,255,387	EPDNEW

RGD ID:

6808169

Promoter ID:

HG_KWN:65736

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000254710

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	139,268,471 - 139,269,912 (+)	MPROMDB

RGD ID:

6814429

Promoter ID:

HG_MGC:1004

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

BC011892

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	139,270,386 - 139,270,886 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24324	AgrOrtholog
COSMIC	NELFB	COSMIC
Ensembl Genes	ENSG00000188986	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000343053	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000343053.6	UniProtKB/Swiss-Prot
GTEx	ENSG00000188986	GTEx
HGNC ID	HGNC:24324	ENTREZGENE
Human Proteome Map	NELFB	Human Proteome Map
InterPro	COBRA1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:25920	UniProtKB/Swiss-Prot
NCBI Gene	25920	ENTREZGENE
OMIM	611180	OMIM
PANTHER	NEGATIVE ELONGATION FACTOR B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR13503	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	COBRA1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162382703	PharmGKB
UniProt	A0A5H1ZRP4	ENTREZGENE, UniProtKB/TrEMBL
	NELFB_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A0A0X1KG71	UniProtKB/Swiss-Prot
	A2BFA3	UniProtKB/Swiss-Prot
	Q96EW5	UniProtKB/Swiss-Prot
	Q9H9R4	UniProtKB/Swiss-Prot
	Q9ULN8	UniProtKB/Swiss-Prot
	Q9Y3W0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-02-06	NELFB	negative elongation factor complex member B	COBRA1	cofactor of BRCA1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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