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Gene: NELFCD (negative elongation factor complex member C/D) Homo sapiens

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Symbol:

NELFCD

Name:

negative elongation factor complex member C/D

RGD ID:

1346942

HGNC Page

HGNC:15934

Description:

Predicted to enable RNA binding activity. Involved in negative regulation of transcription elongation by RNA polymerase II. Located in membrane. Part of NELF complex. Biomarker of prostate cancer.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HSPC130; negative elongation factor C/D; negative elongation factor proteins C and D; NELF-C; NELF-C/D; NELF-D; TH1; TH1 drosophila homolog; TH1-like; TH1-like protein; TH1L; trihydrophobin 1

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	20	58,981,256 - 58,995,113 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	58,981,208 - 58,995,133 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	57,556,311 - 57,570,168 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	56,989,706 - 57,003,583 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	56,989,705 - 57,003,581	NCBI
Celera	20	54,296,740 - 54,310,603 (+)	NCBI		Celera
Cytogenetic Map	20	q13.32	NCBI
HuRef	20	54,343,186 - 54,357,094 (+)	NCBI		HuRef
CHM1_1	20	57,457,652 - 57,471,577 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	60,764,380 - 60,778,214 (+)	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

amyotrophic lateral sclerosis type 8 (IAGP)

prostate cancer (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

17alpha-ethynylestradiol (ISO)

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)

3-methylcholanthrene (EXP)

4,4'-diaminodiphenylmethane (ISO)

bisphenol A (ISO)

carbamazepine (EXP)

CGP 52608 (EXP)

decabromodiphenyl ether (EXP)

ethanol (ISO)

ivermectin (EXP)

lead(0) (EXP)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

tamoxifen (ISO)

tert-butyl hydroperoxide (EXP)

tetrachloromethane (ISO)

thiram (EXP)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

negative regulation of DNA-templated transcription (IEA)

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

Cellular Component

membrane (HDA)

NELF complex (IBA,IDA,IPI)

nucleoplasm (TAS)

nucleus (IDA,IEA)

Molecular Function

protein binding (IPI)

RNA binding (IBA,IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

RNA polymerase II transcription elongation pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GREB1 tissue expression is associated with organ-confined prostate cancer.	Antunes AA, etal., Urol Oncol. 2012 Jan-Feb;30(1):16-20. doi: 10.1016/j.urolonc.2009.09.014. Epub 2009 Nov 27.
2.	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.
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:10199401	PMID:11030415	PMID:11042152	PMID:11112772	PMID:11780052	PMID:11952167	PMID:12477932	PMID:12612062	PMID:12620389	PMID:12676794	PMID:14684750
PMID:14702039	PMID:15231748	PMID:15489334	PMID:16169070	PMID:16838299	PMID:17131388	PMID:17353931	PMID:17442680	PMID:17499042	PMID:17621989	PMID:18562274	PMID:19136554
PMID:19245807	PMID:19673036	PMID:19946888	PMID:20028984	PMID:20069563	PMID:20211142	PMID:20305087	PMID:20735431	PMID:21078624	PMID:21873635	PMID:21988832	PMID:22238675
PMID:23272104	PMID:23284306	PMID:23455924	PMID:23518577	PMID:23753411	PMID:24158816	PMID:24981860	PMID:25416956	PMID:25609649	PMID:25921289	PMID:26186194	PMID:26496610
PMID:27282391	PMID:28380382	PMID:28514442	PMID:29509190	PMID:29795304	PMID:30554943	PMID:31048545	PMID:32296183	PMID:32416067	PMID:32572027	PMID:32814053	PMID:32877691
PMID:32994395	PMID:33239621	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34709266	PMID:35271311	PMID:35575683	PMID:35831314	PMID:35944360	PMID:36215168	PMID:36398858
PMID:36931259	PMID:37117180	PMID:37223481	PMID:37591184	PMID:37848033	PMID:38809918

Genomics

Comparative Map Data

NELFCD
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	58,981,256 - 58,995,113 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	58,981,208 - 58,995,133 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	57,556,311 - 57,570,168 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	56,989,706 - 57,003,583 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	56,989,705 - 57,003,581	NCBI
Celera	20	54,296,740 - 54,310,603 (+)	NCBI		Celera
Cytogenetic Map	20	q13.32	NCBI
HuRef	20	54,343,186 - 54,357,094 (+)	NCBI		HuRef
CHM1_1	20	57,457,652 - 57,471,577 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	60,764,380 - 60,778,214 (+)	NCBI		T2T-CHM13v2.0

Nelfcd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	174,257,623 - 174,269,298 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	174,257,597 - 174,269,295 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	174,415,804 - 174,427,505 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	174,415,804 - 174,427,502 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	174,241,305 - 174,253,003 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	174,058,743 - 174,070,436 (+)	NCBI		MGSCv36	mm8
Celera	2	180,375,996 - 180,388,332 (+)	NCBI		Celera
Cytogenetic Map	2	H4	NCBI
cM Map	2	97.93	NCBI

Nelfcd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	183,631,968 - 183,643,088 (+)	NCBI		GRCr8
mRatBN7.2	3	163,213,765 - 163,224,886 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	163,213,762 - 163,224,884 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	167,012,506 - 167,023,627 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	175,508,965 - 175,520,084 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	173,253,352 - 173,264,473 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	172,510,840 - 172,527,118 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	172,510,874 - 172,526,740 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	178,565,103 - 178,574,630 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	3	162,387,255 - 162,398,373 (+)	NCBI		Celera
Cytogenetic Map	3	q43	NCBI

Nelfcd
(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_004955445	597,826 - 610,134 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955445	597,826 - 610,134 (-)	NCBI	ChiLan1.0	ChiLan1.0

NELFCD
(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	21	64,744,607 - 64,758,512 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	64,737,729 - 64,751,634 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	55,332,309 - 55,346,167 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	56,697,394 - 56,706,458 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	56,693,685 - 56,706,458 (+)	Ensembl	panpan1.1		panPan2

NELFCD
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	43,685,356 - 43,743,239 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	43,734,236 - 43,743,233 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	42,976,753 - 42,989,365 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	44,596,768 - 44,609,381 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	44,596,635 - 44,609,369 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	43,700,324 - 43,712,935 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	43,819,006 - 43,831,619 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	44,478,807 - 44,491,418 (+)	NCBI		UU_Cfam_GSD_1.0

Nelfcd
(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_024408640	181,824,278 - 181,832,136 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936530	1,474,136 - 1,481,567 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936530	1,474,097 - 1,481,943 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NELFCD
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	59,129,076 - 59,141,499 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	59,129,055 - 59,141,499 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	66,499,448 - 66,511,907 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NELFCD
(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	2	5,146,137 - 5,159,965 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	5,146,575 - 5,159,883 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	53,197,345 - 53,211,173 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nelfcd
(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_004624741	25,267,359 - 25,280,844 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	25,267,334 - 25,280,844 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NELFCD
25 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	copy number gain	See cases [RCV000135622]	Chr20:55630597..60941207 [GRCh38] Chr20:54220678..59516263 [GRCh37] Chr20:53639062..58949658 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	copy number gain	See cases [RCV000141347]	Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_198976.4(NELFCD):c.1344+10C>T	single nucleotide variant	not provided [RCV000966092]	Chr20:58993122 [GRCh38] Chr20:57568177 [GRCh37] Chr20:20q13.32	benign
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	copy number gain	not provided [RCV000767669]	Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33	pathogenic
NC_000020.10:g.(?_56993257)_(57967907_?)dup	duplication	Amyotrophic lateral sclerosis type 8 [RCV004579447]	Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.925A>G (p.Thr309Ala)	single nucleotide variant	not specified [RCV004328403]	Chr20:58991046 [GRCh38] Chr20:57566101 [GRCh37] Chr20:20q13.32	uncertain significance
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	copy number gain	not provided [RCV001007097]	Chr20:55743522..62032989 [GRCh37] Chr20:20q13.31-13.33	pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	copy number gain	not provided [RCV001007098]	Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33	pathogenic
NC_000020.10:g.(?_56993257)_(57967907_?)dup	duplication	Amyotrophic lateral sclerosis type 8 [RCV001324796]	Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	copy number gain	not specified [RCV002052713]	Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33	pathogenic
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	copy number loss	not specified [RCV002052712]	Chr20:55292205..57866365 [GRCh37] Chr20:20q13.31-13.32	pathogenic
NC_000020.10:g.(?_54823900)_(57899514_?)del	deletion	not provided [RCV001900543]	Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32	uncertain significance
NM_198976.4(NELFCD):c.-9G>C	single nucleotide variant	not specified [RCV004325832]	Chr20:58981301 [GRCh38] Chr20:57556356 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.932T>C (p.Met311Thr)	single nucleotide variant	not specified [RCV004127101]	Chr20:58991053 [GRCh38] Chr20:57566108 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.10G>A (p.Asp4Asn)	single nucleotide variant	not specified [RCV004159059]	Chr20:58981319 [GRCh38] Chr20:57556374 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.1348A>G (p.Ser450Gly)	single nucleotide variant	not specified [RCV004165188]	Chr20:58993452 [GRCh38] Chr20:57568507 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.99G>T (p.Glu33Asp)	single nucleotide variant	not specified [RCV004130691]	Chr20:58986131 [GRCh38] Chr20:57561186 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.712G>A (p.Val238Met)	single nucleotide variant	not specified [RCV004128209]	Chr20:58989912 [GRCh38] Chr20:57564967 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.383C>G (p.Thr128Ser)	single nucleotide variant	not specified [RCV004077110]	Chr20:58987804 [GRCh38] Chr20:57562859 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.915C>G (p.Phe305Leu)	single nucleotide variant	not specified [RCV004142659]	Chr20:58991036 [GRCh38] Chr20:57566091 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.1060G>T (p.Ala354Ser)	single nucleotide variant	not specified [RCV004099332]	Chr20:58991417 [GRCh38] Chr20:57566472 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.50A>G (p.Asp17Gly)	single nucleotide variant	not specified [RCV004281215]	Chr20:58981359 [GRCh38] Chr20:57556414 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.-3A>G	single nucleotide variant	not specified [RCV004265873]	Chr20:58981307 [GRCh38] Chr20:57556362 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.1538A>G (p.Lys513Arg)	single nucleotide variant	not specified [RCV004279418]	Chr20:58993721 [GRCh38] Chr20:57568776 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.1693C>T (p.Pro565Ser)	single nucleotide variant	not specified [RCV004316321]	Chr20:58994221 [GRCh38] Chr20:57569276 [GRCh37] Chr20:20q13.32	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
NM_198976.4(NELFCD):c.1021C>A (p.Gln341Lys)	single nucleotide variant	not specified [RCV004343323]	Chr20:58991378 [GRCh38] Chr20:57566433 [GRCh37] Chr20:20q13.32	uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	copy number gain	20q13.13qter duplication [RCV004555205]	Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33	pathogenic
NM_198976.4(NELFCD):c.1066A>G (p.Ser356Gly)	single nucleotide variant	not specified [RCV004483747]	Chr20:58991423 [GRCh38] Chr20:57566478 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.1577C>T (p.Thr526Ile)	single nucleotide variant	not specified [RCV004483753]	Chr20:58993760 [GRCh38] Chr20:57568815 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.-23C>T	single nucleotide variant	not specified [RCV004483767]	Chr20:58981287 [GRCh38] Chr20:57556342 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.701C>T (p.Ala234Val)	single nucleotide variant	not specified [RCV004483770]	Chr20:58989901 [GRCh38] Chr20:57564956 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.797A>G (p.Asp266Gly)	single nucleotide variant	not specified [RCV004483778]	Chr20:58990918 [GRCh38] Chr20:57565973 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.-20G>A	single nucleotide variant	not specified [RCV004483781]	Chr20:58981290 [GRCh38] Chr20:57556345 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.452A>G (p.Tyr151Cys)	single nucleotide variant	not specified [RCV004654763]	Chr20:58988969 [GRCh38] Chr20:57564024 [GRCh37] Chr20:20q13.32	uncertain significance
NM_198976.4(NELFCD):c.704T>C (p.Met235Thr)	single nucleotide variant	not specified [RCV004654762]	Chr20:58989904 [GRCh38] Chr20:57564959 [GRCh37] Chr20:20q13.32	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR1-1	hsa-miR-1	Tarbase	external_info	Proteomics	POSITIVE

Predicted Target Of

	Summary Value
Count of predictions:	3060
Count of miRNA genes:	885
Interacting mature miRNAs:	1046
Transcripts:	ENST00000344018, ENST00000460601, ENST00000464363, ENST00000471621, ENST00000474543, ENST00000477741, ENST00000478389, ENST00000479207, ENST00000482747, ENST00000486263, ENST00000490205, ENST00000492016, ENST00000497935, ENST00000602795
Prediction methods:	Microtar, Miranda, Rnahybrid
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2292864	PRSTS43_H	Prostate tumor susceptibility QTL 43 (human)	0.62	0.05	Prostate tumor susceptibility		20	47303039	64444167	Human
1300007	BP29_H	Blood pressure QTL 29 (human)			Blood pressure	hypertension susceptibility	20	36536005	62536005	Human

Markers in Region

TH1L_9726

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,569,704 - 57,570,374	UniSTS	GRCh37
Build 36	20	57,003,099 - 57,003,769	RGD	NCBI36
Celera	20	54,310,119 - 54,310,789	RGD
HuRef	20	54,356,610 - 54,357,280	UniSTS

RH48060

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,570,269 - 57,570,458	UniSTS	GRCh37
Build 36	20	57,003,664 - 57,003,853	RGD	NCBI36
Celera	20	54,310,684 - 54,310,873	RGD
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	20	q13	UniSTS
HuRef	20	54,357,175 - 54,357,364	UniSTS
GeneMap99-GB4 RH Map	20	339.83	UniSTS
NCBI RH Map	20	583.1	UniSTS

A004R34

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,569,907 - 57,570,144	UniSTS	GRCh37
Build 36	20	57,003,302 - 57,003,539	RGD	NCBI36
Celera	20	54,310,322 - 54,310,559	RGD
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	20	q13	UniSTS
HuRef	20	54,356,813 - 54,357,050	UniSTS
GeneMap99-GB4 RH Map	20	339.83	UniSTS

AL031482

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,567,939 - 57,568,077	UniSTS	GRCh37
Build 36	20	57,001,334 - 57,001,472	RGD	NCBI36
Celera	20	54,308,354 - 54,308,492	RGD
Cytogenetic Map	20	q13	UniSTS
HuRef	20	54,354,845 - 54,354,983	UniSTS

SHGC-31778

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,570,048 - 57,570,175	UniSTS	GRCh37
Build 36	20	57,003,443 - 57,003,570	RGD	NCBI36
Celera	20	54,310,463 - 54,310,590	RGD
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	20	q13	UniSTS
HuRef	20	54,356,954 - 54,357,081	UniSTS
Stanford-G3 RH Map	20	2817.0	UniSTS
GeneMap99-GB4 RH Map	20	349.81	UniSTS
Whitehead-RH Map	20	355.2	UniSTS
NCBI RH Map	20	583.1	UniSTS
GeneMap99-G3 RH Map	20	2850.0	UniSTS

TH1L

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	57,568,058 - 57,568,556	UniSTS	GRCh37
Celera	20	54,308,473 - 54,308,971	UniSTS
HuRef	20	54,354,964 - 54,355,462	UniSTS

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	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_198976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047440188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323481	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_244142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA831111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161479	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ238374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ238375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ238376	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ238379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL109840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI459250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM974193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ022435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY015074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000460601 ⟹ ENSP00000436783

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,275 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000464363

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,275 - 58,986,761 (+)	Ensembl

Ensembl Acc Id:

ENST00000471621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,252 - 58,987,421 (+)	Ensembl

Ensembl Acc Id:

ENST00000474543

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,989,019 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000477741

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,987,710 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000478389

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,990,095 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000479207

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,991,312 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000482747

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,275 - 58,990,400 (+)	Ensembl

Ensembl Acc Id:

ENST00000486263

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,993,923 - 58,995,133 (+)	Ensembl

Ensembl Acc Id:

ENST00000490205

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,991,037 - 58,991,922 (+)	Ensembl

Ensembl Acc Id:

ENST00000492016

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,252 - 58,987,969 (+)	Ensembl

Ensembl Acc Id:

ENST00000497935

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,990,896 - 58,993,544 (+)	Ensembl

Ensembl Acc Id:

ENST00000602795 ⟹ ENSP00000473290

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,208 - 58,995,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000652272 ⟹ ENSP00000499018

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	58,981,256 - 58,995,113 (+)	Ensembl

RefSeq Acc Id:

NM_198976 ⟹ NP_945327

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	58,981,256 - 58,995,113 (+)	NCBI
GRCh37	20	57,556,263 - 57,570,400 (+)	NCBI
Build 36	20	56,989,706 - 57,003,583 (+)	NCBI Archive
HuRef	20	54,343,186 - 54,357,094 (+)	NCBI
CHM1_1	20	57,457,652 - 57,471,577 (+)	NCBI
T2T-CHM13v2.0	20	60,764,380 - 60,778,214 (+)	NCBI

Sequence:

show sequence

ATGCGCCGCGCTCGCTCGCGGGAGGGCATGGCGGGGGCCGTGCCGGGCGCCATCATGGACGAGG
ACTACTACGGGAGCGCGGCCGAGTGGGGCGACGAGGCTGACGGCGGCCAGCAGGAGGATGATTC
TGGAGAAGGAGAGGATGATGCGGAGGTTCAGCAAGAATGCCTGCATAAATTTTCCACCCGGGAT
TATATCATGGAACCCTCCATCTTCAACACTCTGAAGAGGTATTTTCAGGCAGGAGGGTCTCCAG
AGAATGTTATCCAGCTCTTATCTGAAAACTACACCGCTGTGGCCCAGACTGTGAACCTGCTGGC
CGAGTGGCTCATTCAGACAGGTGTTGAGCCAGTGCAGGTTCAGGAAACTGTGGAAAATCACTTG
AAGAGTTTGCTGATCAAACATTTTGACCCCCGCAAAGCAGATTCTATTTTTACTGAAGAAGGAG
AGACCCCAGCGTGGCTGGAACAGATGATTGCACATACCACGTGGCGGGACCTTTTTTATAAACT
GGCTGAAGCCCATCCAGACTGTTTGATGCTGAACTTCACCGTTAAGCTTATTTCTGACGCAGGG
TACCAGGGGGAGATCACCAGTGTGTCCACAGCATGCCAGCAGCTAGAAGTGTTCTCGAGAGTGC
TCCGGACCTCTCTAGCTACAATTTTAGATGGAGGAGAAGAAAACCTTGAAAAAAATCTCCCTGA
GTTTGCCAAGATGGTGTGCCACGGGGAGCACACGTACCTGTTTGCCCAGGCCATGATGTCCGTG
CTGGCCCAGGAGGAGCAGGGGGGCTCCGCTGTGCGCAGGATCGCCCAGGAAGTGCAGCGCTTTG
CCCAGGAGAAAGGTCATGACGCCAGTCAGATCACACTAGCCTTGGGCACAGCTGCCTCCTACCC
CAGGGCCTGCCAGGCTCTCGGGGCCATGCTGTCCAAAGGAGCCCTGAACCCTGCTGACATCACC
GTCCTGTTCAAGATGTTCACAAGCATGGACCCTCCTCCGGTTGAACTTATCCGCGTTCCAGCCT
TCCTGGACCTGTTCATGCAGTCACTCTTTAAACCAGGGGCTCGGATCAACCAGGACCACAAGCA
CAAATACATCCACATCTTGGCGTACGCAGCAAGCGTGGTTGAGACCTGGAAGAAGAACAAGCGA
GTGAGCATCAATAAAGATGAGCTGAAGTCAACGTCAAAAGCTGTCGAAACCGTTCACAATTTGT
GTTGCAACGAGAACAAAGGGGCCTCTGAACTAGTGGCAGAATTGAGCACACTTTATCAGTGTAT
TAGGTTTCCAGTGGTAGCAATGGGTGTGCTGAAGTGGGTGGATTGGACTGTATCAGAACCAAGG
TACTTTCAGCTGCAGACTGACCATACCCCTGTCCACCTGGCGTTGCTGGATGAGATCAGCACCT
GCCACCAGCTCCTGCACCCCCAGGTCCTGCAGCTGCTTGTTAAGCTTTTTGAGACTGAGCACTC
CCAGCTGGACGTGATGGAGCAGCTTGAGTTGAAGAAGACACTGCTGGACAGGATGGTTCACCTG
CTGAGTCGAGGTTATGTACTTCCTGTTGTCAGTTACATCCGAAAGTGTCTGGAGAAGCTGGACA
CTGACATTTCACTCATTCGCTATTTTGTCACTGAGGTGCTGGACGTCATTGCTCCTCCTTATAC
CTCTGACTTCGTGCAACTTTTCCTCCCCATCCTGGAGAATGACAGCATCGCAGGTACCATCAAA
ACGGAAGGCGAGCATGACCCTGTGACGGAGTTTATAGCTCACTGCAAATCTAACTTCATCATGG
TGAACTAATTTAGAGCATCCTCCAGAGCTGAAGCAGAACATTCCAGAACCCGTTGTGGAAAAAC
CCTTTCAAGAAGCTGTTTTAAGAGGCTCGGGCAGCGTCTTGAAAATGGGCACCGCTGGGAGGAG
GTGGATGACTTCTTTACAAAGGAAAATGGTAGCAGCTTCAGTGAGAAACTGCCCTTACAAACAG
TCCCTTCTCTGCTGTCAATCCAATACTGCTCCCAAATCCTGTTTTCAGTGTTCATTTCCCTCAA
GGCAGGCGCTGGGCTCCCACGACCCCTCAGGACAGATCTGGCCGTCAGCCGCGGGCCGCTGGGA
ACTCCACTCGGGGAACTCCTTTCCAAGCTGACCTCAGTTTTCTCACAAGAACCCAGTTAGCTGA
TGTTTTATTGTAATTGTCTTAATTTGCTAAGAACAAGTAATAAGTAAATTTTTAAAAAGCC

hide sequence

RefSeq Acc Id:

XM_047440188 ⟹ XP_047296144

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	58,981,256 - 58,994,236 (+)	NCBI

RefSeq Acc Id:

XM_054323481 ⟹ XP_054179456

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	60,764,380 - 60,777,337 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_945327	(Get FASTA)	NCBI Sequence Viewer
	XP_047296144	(Get FASTA)	NCBI Sequence Viewer
	XP_054179456	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF29094	(Get FASTA)	NCBI Sequence Viewer
	AAH14952	(Get FASTA)	NCBI Sequence Viewer
	BAA91618	(Get FASTA)	NCBI Sequence Viewer
	BAB14519	(Get FASTA)	NCBI Sequence Viewer
	BAB14729	(Get FASTA)	NCBI Sequence Viewer
	BAG56917	(Get FASTA)	NCBI Sequence Viewer
	BAG65163	(Get FASTA)	NCBI Sequence Viewer
	CAB64337	(Get FASTA)	NCBI Sequence Viewer
	CAB64339	(Get FASTA)	NCBI Sequence Viewer
	CAB64373	(Get FASTA)	NCBI Sequence Viewer
	EAW75451	(Get FASTA)	NCBI Sequence Viewer
	EAW75452	(Get FASTA)	NCBI Sequence Viewer
	EAW75453	(Get FASTA)	NCBI Sequence Viewer
	EAW75454	(Get FASTA)	NCBI Sequence Viewer
	EAW75455	(Get FASTA)	NCBI Sequence Viewer
	EAW75456	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000436783.2
	ENSP00000473290.1
	ENSP00000499018
	ENSP00000499018.1
GenBank Protein	Q8IXH7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_945327 ⟸ NM_198976

- UniProtKB:

Q9UGN3 (UniProtKB/Swiss-Prot), Q9UGN2 (UniProtKB/Swiss-Prot), Q9UGN1 (UniProtKB/Swiss-Prot), Q9P029 (UniProtKB/Swiss-Prot), Q9NVX5 (UniProtKB/Swiss-Prot), Q9H8T3 (UniProtKB/Swiss-Prot), Q9H888 (UniProtKB/Swiss-Prot), Q9H405 (UniProtKB/Swiss-Prot), Q9BYL2 (UniProtKB/Swiss-Prot), Q8IXH7 (UniProtKB/Swiss-Prot), B4DE06 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MRRARSREGMAGAVPGAIMDEDYYGSAAEWGDEADGGQQEDDSGEGEDDAEVQQECLHKFSTRD
YIMEPSIFNTLKRYFQAGGSPENVIQLLSENYTAVAQTVNLLAEWLIQTGVEPVQVQETVENHL
KSLLIKHFDPRKADSIFTEEGETPAWLEQMIAHTTWRDLFYKLAEAHPDCLMLNFTVKLISDAG
YQGEITSVSTACQQLEVFSRVLRTSLATILDGGEENLEKNLPEFAKMVCHGEHTYLFAQAMMSV
LAQEEQGGSAVRRIAQEVQRFAQEKGHDASQITLALGTAASYPRACQALGAMLSKGALNPADIT
VLFKMFTSMDPPPVELIRVPAFLDLFMQSLFKPGARINQDHKHKYIHILAYAASVVETWKKNKR
VSINKDELKSTSKAVETVHNLCCNENKGASELVAELSTLYQCIRFPVVAMGVLKWVDWTVSEPR
YFQLQTDHTPVHLALLDEISTCHQLLHPQVLQLLVKLFETEHSQLDVMEQLELKKTLLDRMVHL
LSRGYVLPVVSYIRKCLEKLDTDISLIRYFVTEVLDVIAPPYTSDFVQLFLPILENDSIAGTIK
TEGEHDPVTEFIAHCKSNFIMVN

hide sequence

Ensembl Acc Id:

ENSP00000499018 ⟸ ENST00000652272

Ensembl Acc Id:

ENSP00000473290 ⟸ ENST00000602795

Ensembl Acc Id:

ENSP00000436783 ⟸ ENST00000460601

RefSeq Acc Id:	XP_047296144 ⟸ XM_047440188
- Peptide Label:	isoform X1
- UniProtKB:	H0UI80 (UniProtKB/TrEMBL), H0UI81 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054179456 ⟸ XM_054323481
- Peptide Label:	isoform X1
- UniProtKB:	H0UI80 (UniProtKB/TrEMBL), H0UI81 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IXH7-F1-model_v2	AlphaFold	Q8IXH7	1-590	view protein structure

Promoters

RGD ID:

6799147

Promoter ID:

HG_KWN:39999

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000079908, OTTHUMT00000079909, OTTHUMT00000079912, OTTHUMT00000079913, OTTHUMT00000268088, UC002YAF.1, UC002YAH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	56,989,399 - 56,989,899 (+)	MPROMDB

RGD ID:

6799127

Promoter ID:

HG_KWN:40001

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000079906

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	56,996,601 - 56,997,227 (+)	MPROMDB

RGD ID:

6799131

Promoter ID:

HG_KWN:40002

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000079904, OTTHUMT00000079910, OTTHUMT00000268087, OTTHUMT00000268089

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	56,998,176 - 57,000,417 (+)	MPROMDB

RGD ID:

6799128

Promoter ID:

HG_KWN:40003

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000079911

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	57,001,726 - 57,002,552 (+)	MPROMDB

RGD ID:

13602256

Promoter ID:

EPDNEW_H27312

Type:

initiation region

Name:

NELFCD_1

Description:

negative elongation factor complex member C/D

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	58,981,275 - 58,981,335	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15934	AgrOrtholog
COSMIC	NELFCD	COSMIC
Ensembl Genes	ENSG00000101158	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000460601.5	UniProtKB/TrEMBL
	ENST00000602795.6	UniProtKB/TrEMBL
	ENST00000652272	ENTREZGENE
	ENST00000652272.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000101158	GTEx
HGNC ID	HGNC:15934	ENTREZGENE
Human Proteome Map	NELFCD	Human Proteome Map
InterPro	TH1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51497	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	51497	ENTREZGENE
OMIM	605297	OMIM
PANTHER	NEGATIVE ELONGATION FACTOR C/D	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12144	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TH1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA38055	PharmGKB
UniProt	B4DE06	ENTREZGENE
	H0UI80	ENTREZGENE, UniProtKB/TrEMBL
	H0UI81	ENTREZGENE
	NELFD_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9BYL2	ENTREZGENE
	Q9H405	ENTREZGENE
	Q9H888	ENTREZGENE
	Q9H8T3	ENTREZGENE
	Q9NVX5	ENTREZGENE
	Q9P029	ENTREZGENE
	Q9UGN1	ENTREZGENE
	Q9UGN2	ENTREZGENE
	Q9UGN3	ENTREZGENE
	X6RLT1_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B4DE06	UniProtKB/Swiss-Prot
	H0UI81	UniProtKB/TrEMBL
	Q9BYL2	UniProtKB/Swiss-Prot
	Q9H405	UniProtKB/Swiss-Prot
	Q9H888	UniProtKB/Swiss-Prot
	Q9H8T3	UniProtKB/Swiss-Prot
	Q9NVX5	UniProtKB/Swiss-Prot
	Q9P029	UniProtKB/Swiss-Prot
	Q9UGN1	UniProtKB/Swiss-Prot
	Q9UGN2	UniProtKB/Swiss-Prot
	Q9UGN3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-02-06	NELFCD	negative elongation factor complex member C/D	TH1L	TH1-like (Drosophila)	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

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Imported Disease Annotations - ClinVar

RGD Manual Annotations