IER5L (immediate early response 5 like)

Gene: IER5L (immediate early response 5 like) Homo sapiens

Analyze

Symbol:

IER5L

Name:

immediate early response 5 like

RGD ID:

1349464

HGNC Page

HGNC:23679

Description:

ASSOCIATED WITH genetic disease; primary coenzyme Q10 deficiency 7; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA247A12.2; immediate early response 5-like; immediate early response gene 5-like protein; MGC70833

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ier5l (immediate early response 5-like)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ier5l (immediate early response 5-like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ier5l (immediate early response 5 like)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	IER5L (immediate early response 5 like)	NCBI	Ortholog
Canis lupus familiaris (dog):	IER5L (immediate early response 5 like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ier5l (immediate early response 5 like)	NCBI	Ortholog
Sus scrofa (pig):	IER5L (immediate early response 5 like)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	IER5L (immediate early response 5 like)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ier5l (immediate early response 5 like)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Ier5l (immediate early response 5-like)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Ier5l (immediate early response 5-like)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ier5l (immediate early response 5-like)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	ier5l.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	ier5l	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ier5l.S	Alliance	DIOPT (Xenbase)

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	129,175,552 - 129,178,261 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	129,175,552 - 129,178,261 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	131,937,831 - 131,940,540 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	130,977,652 - 130,980,361 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	129,018,511 - 129,020,080	NCBI
Celera	9	102,590,120 - 102,592,833 (-)	NCBI		Celera
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	101,545,290 - 101,547,633 (-)	NCBI		HuRef
CHM1_1	9	132,088,662 - 132,091,375 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	141,379,030 - 141,381,743 (-)	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

genetic disease (IAGP)

primary coenzyme Q10 deficiency 7 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (EXP)

17beta-estradiol (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP,ISO)

aflatoxin B1 (EXP,ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

arsenous acid (EXP)

atrazine (EXP)

azathioprine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

butanal (EXP)

C60 fullerene (ISO)

cadmium dichloride (EXP,ISO)

carbon nanotube (ISO)

chlorpyrifos (ISO)

choline (ISO)

coumestrol (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

dimethylarsinous acid (EXP)

dioxygen (ISO)

diquat (ISO)

dorsomorphin (EXP)

ethyl methanesulfonate (EXP)

folic acid (ISO)

formaldehyde (EXP)

furan (ISO)

genistein (EXP)

gentamycin (ISO)

L-methionine (ISO)

Licochalcone B (EXP)

lipopolysaccharide (EXP)

maneb (ISO)

methyl methanesulfonate (EXP)

methylisothiazolinone (EXP)

methylmercury chloride (EXP)

microcystin-LR (EXP)

Muraglitazar (ISO)

N-methyl-4-phenylpyridinium (ISO)

niclosamide (EXP)

paracetamol (ISO)

paraquat (ISO)

phenylmercury acetate (EXP)

pirinixic acid (ISO)

progesterone (EXP)

propanal (EXP)

quercetin (EXP)

resveratrol (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

Soman (ISO)

sunitinib (EXP)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

Theaflavin 3,3'-digallate (EXP)

thimerosal (EXP,ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vorinostat (EXP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:15146197	PMID:16341674	PMID:30599213	PMID:32393512	PMID:33961781	PMID:35748872	PMID:36047562

Genomics

Comparative Map Data

IER5L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	129,175,552 - 129,178,261 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	129,175,552 - 129,178,261 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	131,937,831 - 131,940,540 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	130,977,652 - 130,980,361 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	9	129,018,511 - 129,020,080	NCBI
Celera	9	102,590,120 - 102,592,833 (-)	NCBI		Celera
Cytogenetic Map	9	q34.11	NCBI
HuRef	9	101,545,290 - 101,547,633 (-)	NCBI		HuRef
CHM1_1	9	132,088,662 - 132,091,375 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	141,379,030 - 141,381,743 (-)	NCBI		T2T-CHM13v2.0

Ier5l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	30,362,643 - 30,364,211 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	30,361,549 - 30,364,231 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	30,472,631 - 30,474,199 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	30,471,537 - 30,474,219 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	30,328,151 - 30,329,719 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	30,293,547 - 30,296,228 (-)	NCBI		MGSCv36	mm8
Celera	2	30,177,428 - 30,179,159 (-)	NCBI		Celera
Cytogenetic Map	2	B	NCBI
cM Map	2	21.71	NCBI

Ier5l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	34,141,866 - 34,143,457 (-)	NCBI		GRCr8
mRatBN7.2	3	13,744,056 - 13,745,647 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	13,744,078 - 13,745,647 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	16,815,581 - 16,817,172 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	25,400,543 - 25,402,134 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	23,646,713 - 23,648,296 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	9,036,351 - 9,037,942 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	9,036,373 - 9,037,942 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	14,389,470 - 14,391,061 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	9,515,947 - 9,517,538 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	8,510,665 - 8,512,260 (-)	NCBI		Celera
Cytogenetic Map	3	p12	NCBI

Ier5l
(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_004955570	1,480,851 - 1,482,098 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955570	1,479,582 - 1,482,281 (-)	NCBI	ChiLan1.0	ChiLan1.0

IER5L
(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	10,170,905 - 10,175,897 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	10,175,514 - 10,177,132 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	100,300,931 - 100,303,651 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

IER5L
(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	54,509,842 - 54,512,554 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	54,510,047 - 54,511,276 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	53,705,489 - 53,708,162 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	55,405,734 - 55,408,446 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	55,405,943 - 55,407,169 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	54,192,384 - 54,195,091 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	54,504,499 - 54,507,213 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	54,597,894 - 54,600,607 (+)	NCBI		UU_Cfam_GSD_1.0

Ier5l
(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	196,814,556 - 196,817,331 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936487	16,584,381 - 16,585,639 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936487	16,584,203 - 16,585,824 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

IER5L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	269,454,099 - 269,455,310 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	269,453,920 - 269,455,524 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	303,469,008 - 303,471,644 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

IER5L
(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	8,988,180 - 8,990,935 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	8,988,433 - 8,989,650 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666096	576,232 - 578,931 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ier5l
(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	5,953,868 - 5,955,073 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	5,953,687 - 5,956,362 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in IER5L
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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 9q33.3-34.11(chr9:125993583-129682375)x1	copy number loss	See cases [RCV000052923]	Chr9:125993583..129682375 [GRCh38] Chr9:128755862..132444654 [GRCh37] Chr9:127795683..131484475 [NCBI36] Chr9:9q33.3-34.11	pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	copy number loss	See cases [RCV000052934]	Chr9:127874581..130421811 [GRCh38] Chr9:130636860..133297198 [GRCh37] Chr9:129676681..132287019 [NCBI36] Chr9:9q34.11	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 9q34.11-34.3(chr9:129068560-136495351)x3	copy number gain	See cases [RCV000053779]	Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3	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 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
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	copy number gain	See cases [RCV000053777]	Chr9:127919476..130079974 [GRCh38] Chr9:130681755..132842253 [GRCh37] Chr9:129721576..131882074 [NCBI36] Chr9:9q34.11	pathogenic
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	copy number gain	See cases [RCV000053778]	Chr9:129036400..130578683 [GRCh38] Chr9:131798679..133454070 [GRCh37] Chr9:130838500..132443891 [NCBI36] Chr9:9q34.11	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(chr9:129068560-138179445)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 9q34.11(chr9:128610170-129368351)x1	copy number loss	See cases [RCV000138126]	Chr9:128610170..129368351 [GRCh38] Chr9:131372449..132130630 [GRCh37] Chr9:130412270..131170451 [NCBI36] Chr9:9q34.11	uncertain significance
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	copy number gain	See cases [RCV000137775]	Chr9:128839676..130912873 [GRCh38] Chr9:131601955..133788260 [GRCh37] Chr9:130641776..132778081 [NCBI36] Chr9:9q34.11-34.12	uncertain significance
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 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 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 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 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 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 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 9q34.11(chr9:130390139-132760275)x1	copy number loss	See cases [RCV000445837]	Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11	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 9q33.2-34.3(chr9:124642754-141146461)x3	copy number gain	See cases [RCV000448784]	Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3	pathogenic
NM_203434.3(IER5L):c.665C>A (p.Ser222Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003264606]	Chr9:129177388 [GRCh38] Chr9:131939667 [GRCh37] Chr9:9q34.11	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 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 9q33.3-34.12(chr9:129370440-133866894)x1	copy number loss	not provided [RCV000748671]	Chr9:129370440..133866894 [GRCh37] Chr9:9q33.3-34.12	pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1	copy number loss	not provided [RCV000748699]	Chr9:131413885..133866894 [GRCh37] Chr9:9q34.11-34.12	benign
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
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	copy number loss	not provided [RCV000767561]	Chr9:131670024..134514071 [GRCh37] Chr9:9q34.11-34.13	likely pathogenic
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 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 9q34.11(chr9:130957344-132310210)x1	copy number loss	not provided [RCV001006274]	Chr9:130957344..132310210 [GRCh37] Chr9:9q34.11	pathogenic
NM_203434.3(IER5L):c.512G>T (p.Arg171Leu)	single nucleotide variant	Inborn genetic diseases [RCV003270008]	Chr9:129177541 [GRCh38] Chr9:131939820 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.681G>T (p.Pro227=)	single nucleotide variant	not provided [RCV000959097]	Chr9:129177372 [GRCh38] Chr9:131939651 [GRCh37] Chr9:9q34.11	benign
NM_203434.3(IER5L):c.780C>T (p.Asp260=)	single nucleotide variant	not provided [RCV000954129]	Chr9:129177273 [GRCh38] Chr9:131939552 [GRCh37] Chr9:9q34.11	benign
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	copy number gain	not provided [RCV001832977]	Chr9:128523763..132604808 [GRCh37] Chr9:9q33.3-34.11	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 9q34.11(chr9:130390139-132760275)	copy number loss	not specified [RCV002052848]	Chr9:130390139..132760275 [GRCh37] Chr9:9q34.11	pathogenic
NC_000009.11:g.(?_131857676)_(135942612_?)dup	duplication	not provided [RCV003116730]	Chr9:131857676..135942612 [GRCh37] Chr9:9q34.11-34.2	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
NM_203434.3(IER5L):c.698C>A (p.Pro233His)	single nucleotide variant	Inborn genetic diseases [RCV003299628]	Chr9:129177355 [GRCh38] Chr9:131939634 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.529C>T (p.Pro177Ser)	single nucleotide variant	Inborn genetic diseases [RCV002970256]	Chr9:129177524 [GRCh38] Chr9:131939803 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.26G>A (p.Ser9Asn)	single nucleotide variant	Inborn genetic diseases [RCV002911021]	Chr9:129178027 [GRCh38] Chr9:131940306 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.942C>G (p.Asp314Glu)	single nucleotide variant	Inborn genetic diseases [RCV002760093]	Chr9:129177111 [GRCh38] Chr9:131939390 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.395C>T (p.Pro132Leu)	single nucleotide variant	Inborn genetic diseases [RCV002699398]	Chr9:129177658 [GRCh38] Chr9:131939937 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.635C>G (p.Pro212Arg)	single nucleotide variant	Inborn genetic diseases [RCV002930433]	Chr9:129177418 [GRCh38] Chr9:131939697 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.10G>A (p.Ala4Thr)	single nucleotide variant	Inborn genetic diseases [RCV002931153]	Chr9:129178043 [GRCh38] Chr9:131940322 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.1139C>A (p.Pro380Gln)	single nucleotide variant	Inborn genetic diseases [RCV002788576]	Chr9:129176914 [GRCh38] Chr9:131939193 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.1133C>T (p.Pro378Leu)	single nucleotide variant	Inborn genetic diseases [RCV002699643]	Chr9:129176920 [GRCh38] Chr9:131939199 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.959G>A (p.Gly320Glu)	single nucleotide variant	Inborn genetic diseases [RCV002744142]	Chr9:129177094 [GRCh38] Chr9:131939373 [GRCh37] Chr9:9q34.11	likely benign
NM_203434.3(IER5L):c.745C>T (p.His249Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002698248]	Chr9:129177308 [GRCh38] Chr9:131939587 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.728C>T (p.Pro243Leu)	single nucleotide variant	Inborn genetic diseases [RCV002855758]	Chr9:129177325 [GRCh38] Chr9:131939604 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.847C>T (p.Pro283Ser)	single nucleotide variant	Inborn genetic diseases [RCV002670388]	Chr9:129177206 [GRCh38] Chr9:131939485 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.623G>A (p.Cys208Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003213277]	Chr9:129177430 [GRCh38] Chr9:131939709 [GRCh37] Chr9:9q34.11	uncertain significance
NM_203434.3(IER5L):c.961C>G (p.Leu321Val)	single nucleotide variant	Inborn genetic diseases [RCV003364384]	Chr9:129177092 [GRCh38] Chr9:131939371 [GRCh37] Chr9:9q34.11	uncertain significance
GRCh37/hg19 9q34.11(chr9:131883676-132328024)x3	copy number gain	not provided [RCV003484784]	Chr9:131883676..132328024 [GRCh37] Chr9:9q34.11	uncertain significance
GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	copy number loss	not specified [RCV003986823]	Chr9:131815597..134209182 [GRCh37] Chr9:9q34.11-34.13	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	578
Count of miRNA genes:	432
Interacting mature miRNAs:	468
Transcripts:	ENST00000372491
Prediction methods:	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.

Markers in Region

RH102717

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,022 - 131,938,147	UniSTS	GRCh37
Build 36	9	130,977,843 - 130,977,968	RGD	NCBI36
Celera	9	102,590,311 - 102,590,436	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,481 - 101,545,602	UniSTS
GeneMap99-GB4 RH Map	9	392.96	UniSTS

ECD10981

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,565 - 131,942,150	UniSTS	GRCh37
Build 36	9	130,981,386 - 130,981,971	RGD	NCBI36
Celera	9	102,593,858 - 102,594,443	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,658 - 101,549,243	UniSTS

ECD15802

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,383 - 131,937,844	UniSTS	GRCh37
Build 36	9	130,977,204 - 130,977,665	RGD	NCBI36
Celera	9	102,589,672 - 102,590,133	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,544,842 - 101,545,303	UniSTS

ECD15803

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,909 - 131,938,370	UniSTS	GRCh37
Build 36	9	130,977,730 - 130,978,191	RGD	NCBI36
Cytogenetic Map	9	q34.11	UniSTS

ECD16757

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,035 - 131,941,461	UniSTS	GRCh37
Build 36	9	130,980,856 - 130,981,282	RGD	NCBI36
Celera	9	102,593,328 - 102,593,754	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,128 - 101,548,554	UniSTS

ECD19412

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,432 - 131,940,754	UniSTS	GRCh37
Build 36	9	130,980,253 - 130,980,575	RGD	NCBI36
Celera	9	102,592,725 - 102,593,047	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,547,525 - 101,547,847	UniSTS

ECD21298

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,942,259 - 131,942,512	UniSTS	GRCh37
Build 36	9	130,982,080 - 130,982,333	RGD	NCBI36
Celera	9	102,594,552 - 102,594,805	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,549,352 - 101,549,605	UniSTS

ECD21896

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,051 - 131,939,286	UniSTS	GRCh37
Build 36	9	130,978,872 - 130,979,107	RGD	NCBI36
Celera	9	102,591,344 - 102,591,579	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,546,510 - 101,546,745	UniSTS

ECD22059

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,473 - 131,938,703	UniSTS	GRCh37
Build 36	9	130,978,294 - 130,978,524	RGD	NCBI36
Celera	9	102,590,766 - 102,590,996	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,932 - 101,546,162	UniSTS

ECD22175

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,176 - 131,940,402	UniSTS	GRCh37
Build 36	9	130,979,997 - 130,980,223	RGD	NCBI36
Celera	9	102,592,469 - 102,592,695	RGD
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	14	q21	UniSTS
HuRef	9	101,547,269 - 101,547,495	UniSTS

ECD22244

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,390 - 131,939,614	UniSTS	GRCh37
Build 36	9	130,979,211 - 130,979,435	RGD	NCBI36
Celera	9	102,591,683 - 102,591,907	RGD
Cytogenetic Map	9	q34.11	UniSTS

REN35995

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,942,259 - 131,942,515	UniSTS	GRCh37
Build 36	9	130,982,080 - 130,982,336	RGD	NCBI36
Celera	9	102,594,552 - 102,594,808	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,549,352 - 101,549,608	UniSTS

REN35996

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,942,041 - 131,942,275	UniSTS	GRCh37
Build 36	9	130,981,862 - 130,982,096	RGD	NCBI36
Celera	9	102,594,334 - 102,594,568	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,549,134 - 101,549,368	UniSTS

REN35997

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,816 - 131,942,048	UniSTS	GRCh37
Build 36	9	130,981,637 - 130,981,869	RGD	NCBI36
Celera	9	102,594,109 - 102,594,341	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,909 - 101,549,141	UniSTS

REN35998

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,600 - 131,941,835	UniSTS	GRCh37
Build 36	9	130,981,421 - 130,981,656	RGD	NCBI36
Celera	9	102,593,893 - 102,594,128	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,693 - 101,548,928	UniSTS

REN35999

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,350 - 131,941,589	UniSTS	GRCh37
Build 36	9	130,981,171 - 130,981,410	RGD	NCBI36
Celera	9	102,593,643 - 102,593,882	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,443 - 101,548,682	UniSTS

REN36000

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,941,120 - 131,941,369	UniSTS	GRCh37
Build 36	9	130,980,941 - 130,981,190	RGD	NCBI36
Celera	9	102,593,413 - 102,593,662	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,548,213 - 101,548,462	UniSTS

REN36001

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,901 - 131,941,139	UniSTS	GRCh37
Build 36	9	130,980,722 - 130,980,960	RGD	NCBI36
Celera	9	102,593,194 - 102,593,432	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,547,994 - 101,548,232	UniSTS

REN36002

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,690 - 131,940,923	UniSTS	GRCh37
Build 36	9	130,980,511 - 130,980,744	RGD	NCBI36
Celera	9	102,592,983 - 102,593,216	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,547,783 - 101,548,016	UniSTS

REN36003

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,432 - 131,940,688	UniSTS	GRCh37
Build 36	9	130,980,253 - 130,980,509	RGD	NCBI36
Celera	9	102,592,725 - 102,592,981	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,547,525 - 101,547,781	UniSTS

REN36004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,212 - 131,940,452	UniSTS	GRCh37
Build 36	9	130,980,033 - 130,980,273	RGD	NCBI36
Celera	9	102,592,505 - 102,592,745	RGD
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	14	q21	UniSTS
HuRef	9	101,547,305 - 101,547,545	UniSTS

REN36005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,972 - 131,940,224	UniSTS	GRCh37
Build 36	9	130,979,793 - 130,980,045	RGD	NCBI36
Celera	9	102,592,265 - 102,592,517	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,547,065 - 101,547,317	UniSTS

REN36006

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,541 - 131,939,815	UniSTS	GRCh37
Build 36	9	130,979,362 - 130,979,636	RGD	NCBI36
Celera	9	102,591,834 - 102,592,108	RGD
Cytogenetic Map	9	q34.11	UniSTS

REN36007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,257 - 131,939,530	UniSTS	GRCh37
Build 36	9	130,979,078 - 130,979,351	RGD	NCBI36
Celera	9	102,591,550 - 102,591,823	RGD
Cytogenetic Map	9	q34.11	UniSTS

REN36008

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,939,051 - 131,939,281	UniSTS	GRCh37
Build 36	9	130,978,872 - 130,979,102	RGD	NCBI36
Celera	9	102,591,344 - 102,591,574	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,546,510 - 101,546,740	UniSTS

REN36009

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,830 - 131,939,072	UniSTS	GRCh37
Build 36	9	130,978,651 - 130,978,893	RGD	NCBI36
Celera	9	102,591,123 - 102,591,365	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,546,289 - 101,546,531	UniSTS

REN36010

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,603 - 131,938,837	UniSTS	GRCh37
Build 36	9	130,978,424 - 130,978,658	RGD	NCBI36
Celera	9	102,590,896 - 102,591,130	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,546,062 - 101,546,296	UniSTS

REN36011

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,307 - 131,938,532	UniSTS	GRCh37
Build 36	9	130,978,128 - 130,978,353	RGD	NCBI36
Celera	9	102,590,596 - 102,590,825	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,762 - 101,545,991	UniSTS

REN36012

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,938,097 - 131,938,329	UniSTS	GRCh37
Build 36	9	130,977,918 - 130,978,150	RGD	NCBI36
Celera	9	102,590,386 - 102,590,618	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,552 - 101,545,784	UniSTS

REN36013

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,886 - 131,938,119	UniSTS	GRCh37
Build 36	9	130,977,707 - 130,977,940	RGD	NCBI36
Celera	9	102,590,175 - 102,590,408	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,345 - 101,545,574	UniSTS

REN36014

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,653 - 131,937,900	UniSTS	GRCh37
Build 36	9	130,977,474 - 130,977,721	RGD	NCBI36
Celera	9	102,589,942 - 102,590,189	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,545,112 - 101,545,359	UniSTS

REN36015

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,394 - 131,937,646	UniSTS	GRCh37
Build 36	9	130,977,215 - 130,977,467	RGD	NCBI36
Celera	9	102,589,683 - 102,589,935	RGD
Cytogenetic Map	9	q34.11	UniSTS
HuRef	9	101,544,853 - 101,545,105	UniSTS

stSG628257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,937,814 - 131,938,846	UniSTS	GRCh37
Build 36	9	130,977,635 - 130,978,667	RGD	NCBI36
Celera	9	102,590,103 - 102,591,139	RGD
HuRef	9	101,545,273 - 101,546,305	UniSTS

stSG628259

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	9	131,940,215 - 131,941,462	UniSTS	GRCh37
Build 36	9	130,980,036 - 130,981,283	RGD	NCBI36
Celera	9	102,592,508 - 102,593,755	RGD
HuRef	9	101,547,308 - 101,548,555	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

1204

1735

1019

242

256

178

2280

674

1320

238

1007

1186

903

1542

Low

1233

1245

705

380

1338

285

2051

1489

2413

180

452

425

301

1220

Below cutoff

254

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_203434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AL158151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM763373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ574938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU676697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX458317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN293040	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068269	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000372491 ⟹ ENSP00000361569

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	9	129,175,552 - 129,178,261 (-)	Ensembl

RefSeq Acc Id:

NM_203434 ⟹ NP_982258

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	9	129,175,552 - 129,178,261 (-)	NCBI
GRCh37	9	131,937,831 - 131,940,540 (-)	RGD
Build 36	9	130,977,652 - 130,980,361 (-)	NCBI Archive
Celera	9	102,590,120 - 102,592,833 (-)	RGD
HuRef	9	101,545,290 - 101,547,633 (-)	RGD
CHM1_1	9	132,088,662 - 132,091,375 (-)	NCBI
T2T-CHM13v2.0	9	141,379,030 - 141,381,743 (-)	NCBI

Sequence:

show sequence

ACTCATTGCTTTGGCGCCGTCTGGGGAGCGCGAGCCCGCGGGTGGCGCGCGGCGCATGGTGGCG
GCTCCTTTCGGAGCGCAGCCGAACCTCTGACCCGGACTCCGTTACCCCTGCCCGGCGCGCCCCG
GCGGCCGGCTGGAGGCAGAAACAGCAGAAGCGTTAACAGCAGCAGCGGCGGCGGCTGCTCCGCC
GCCGTCTCCGCGGGAGCATGGAGTGCGCCCTGGACGCCCAGAGCCTGATCAGCATCTCCCTGCG
CAAGATCCACAGCTCCCGAACCCAGCGCGGCGGCATCAAGCTGCACAAGAACCTCCTGGTGTCC
TACGTGCTCCGCAACGCGCGCCAGCTCTACCTGAGCGAGCGCTACGCCGAGCTCTACCGGCGCC
AGCAGCAGCAGCAACAGCAGCAGCCGCCCCACCACCAGCACCAGCACCTAGCGTACGCGGCGCC
GGGCATGCCGGCCAGCGCGGCCGACTTCGGCCCGCTCCAACTTGGCGGCGGCGGGGACGCGGAG
GCGCGCGAGCCGGCCGCCCGGCACCAGCTGCACCAGCTCCACCAGCTCCACCAGCTGCACCTCC
AGCAGCAGCTGCACCAGCACCAGCACCCGGCGCCCAGGGGCTGCGCGGCGGCGGCGGCGGCCGG
AGCGCCCGCGGGCGGCGCGGGGGCGCTCTCGGAGCTGCCCGGGTGCGCCGCGCTCCAGCCGCCG
CACGGCGCGCCCCACCGCGGGCAGCCCTTGGAGCCTCTGCAGCCGGGTCCTGCGCCGCTGCCGC
TGCCGCTGCCGCCGCCCGCGCCCGCTGCGCTCTGCCCGCGGGACCCTCGCGCCCCGGCCGCCTG
CTCCGCGCCCCCAGGGGCCGCCCCTCCGGCCGCCGCCGCTTCTCCGCCCGCCTCCCCGGCCCCC
GCCTCCTCCCCCGGCTTCTACCGGGGCGCATACCCTACCCCTTCGGACTTCGGCTTGCACTGCA
GCAGCCAGACCACCGTGCTGGACCTAGACACTCACGTGGTGACCACGGTGGAGAACGGCTACTT
GCACCAGGACTGCTGCGCCTCCGCCCACTGCCCCTGCTGTGGCCAGGGCGCTCCGGGACCGGGC
CTGGCGTCCGCCGCCGGCTGCAAGCGCAAGTATTACCCTGGCCAGGAGGAGGAGGAAGACGACG
AGGAGGATGCGGGCGGGCTGGGGGCCGAGCCCCCCGGGGGCGCCCCGTTCGCCCCCTGCAAGCG
CGCCCGCTTCGAGGACTTCTGCCCGGACTCGTCCCCGGACGCGTCCAACATCTCAAACTTGATC
TCCATCTTTGGCTCCGGCTTCTCGGGGCTGGTGAGCCGACAGCCGGACTCCTCGGAGCAGCCGC
CGCCGCTCAACGGGCAGCTGTGCGCCAAGCAGGCGCTCGCCAGCCTCGGCGCCTGGACTCGAGC
CATTGTCGCCTTCTAGGGACCCCCGAGGGCACAGGGACCCGGGGCCCCGCGGGGCTGGGGCCAG
ACAAAGACTCGGCAAAGGGGCGAGAGGAGGGAACGAGCGGGCGCCGGGCCACTCGGGGCTGAGC
TGGGGGCGAGCGGGGGCAGGCGGCTGATGTTTTATAAATTGTAAAATAAAAAAAAAAGAAATCT
AAAATCTTGGACTTTATTTTTGCAGAGAGAAAAAGCGCCTATTTAAGTATGCTTTGTGTTTCTC
CTACTCCTTTTTTTCTTTTTATTGTAGTGATTGCAGTGGTGTTTAGCGAGGAGCCTACCACGTG
AGGGAGGGCTGCTGCCCGGAGGAGGTGCCGGGCAGCCGGGGGCGAGGCAGGGCGCCCTGGCCGC
CGGGGCGCGCCGGGGGCGCAGCTCAGGAGGGCGCCGGACCTGGGAAGCCGATTCCAATCAGTTG
TCAGACCCGGGAAGCCCGACGTTCCGCTCTCCCGAGTCCCTCTGTGGGGTGAGGAATGGGTCTT
GTGAAATTCTGAGCAAAAACAAAGGCAAACTCTATCTCCGAAAGGGACGTTTGGGTCACATTTC
CTCTCTGGGGGCGGACTCCAAAGTTCTCAAAATGAGAAGGCAGAAATGAAAACACTTCAACTTT
TTTTTTCTTTTCTTCCCGGGGCGGGTGTCTTGAACCCCTCTTCTCCCCGCCCCTCTGGCTCCGT
TCTCCTCCCCTCCTCCACCCGTCTCCCGGACTCGGGGGTGGCGCCTGACACCCCGACACTCTCG
GACACTGGGTAAGGGGTGGGGGGCGGGCACGGCGGACTACATTTCCCATCATGCCTAGCACTGC
GGTCCTCACTAAACAAAAAAGGAAGTCAATTCCTTCACCTGGATCCCCGGCGGCCCCGGGGGAG
GGAGGGGCCGGGACCGCCGACTGCGTTGGAGACTTTGCACTAAGTTCCTGGTCAGCTGTGGTGT
TTGTGTGTGTGCTTCTAAGTTGCACTGCCTTGGTTCAGCCTTCGGTTGCATTTCATGAAACCAG
CATTGTTCGAGCCTGTGAGAACCCCGTCCTGTGTCTTCAGCTCGATAGATTTGTTTAATTTAAA
AGCCTTTTGTTGTAAAAAGGTGGGGTTCGTCTGCAGCCCCTCTGGTTCTCTGCCATCAGCACCG
TGTGGACTCCAAAACGAGTTGCCAATCCTTCCTTTCTCGGCCCTTTTCCCTCATTACCCTGTAT
TTTTGTGCATACTGAATTGTATATCACCGGGTAAAACTGTTCAGATTGTTTAAATTTATAATCT
TAATAAAAAGTCGATTACAGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_982258	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH64028	(Get FASTA)	NCBI Sequence Viewer
	EAW87886	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000361569
	ENSP00000361569.2
GenBank Protein	Q5T953	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_982258 ⟸ NM_203434

- UniProtKB:

Q6P3E2 (UniProtKB/Swiss-Prot), Q5T953 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MECALDAQSLISISLRKIHSSRTQRGGIKLHKNLLVSYVLRNARQLYLSERYAELYRRQQQQQQ
QQPPHHQHQHLAYAAPGMPASAADFGPLQLGGGGDAEAREPAARHQLHQLHQLHQLHLQQQLHQ
HQHPAPRGCAAAAAAGAPAGGAGALSELPGCAALQPPHGAPHRGQPLEPLQPGPAPLPLPLPPP
APAALCPRDPRAPAACSAPPGAAPPAAAASPPASPAPASSPGFYRGAYPTPSDFGLHCSSQTTV
LDLDTHVVTTVENGYLHQDCCASAHCPCCGQGAPGPGLASAAGCKRKYYPGQEEEEDDEEDAGG
LGAEPPGGAPFAPCKRARFEDFCPDSSPDASNISNLISIFGSGFSGLVSRQPDSSEQPPPLNGQ
LCAKQALASLGAWTRAIVAF

hide sequence

RefSeq Acc Id:

ENSP00000361569 ⟸ ENST00000372491

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5T953-F1-model_v2	AlphaFold	Q5T953	1-404	view protein structure

Promoters

RGD ID:

6807604

Promoter ID:

HG_KWN:65233

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000339671

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	9	130,980,166 - 130,980,666 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:23679	AgrOrtholog
COSMIC	IER5L	COSMIC
Ensembl Genes	ENSG00000188483	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000372491	ENTREZGENE
	ENST00000372491.4	UniProtKB/Swiss-Prot
GTEx	ENSG00000188483	GTEx
HGNC ID	HGNC:23679	ENTREZGENE
Human Proteome Map	IER5L	Human Proteome Map
InterPro	IER	UniProtKB/Swiss-Prot
KEGG Report	hsa:389792	UniProtKB/Swiss-Prot
NCBI Gene	389792	ENTREZGENE
PANTHER	IMMEDIATE EARLY RESPONSE GENE 5-LIKE PROTEIN	UniProtKB/Swiss-Prot
	PTHR15895	UniProtKB/Swiss-Prot
Pfam	IER	UniProtKB/Swiss-Prot
PharmGKB	PA134879111	PharmGKB
UniProt	IER5L_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6P3E2	ENTREZGENE
UniProt Secondary	Q6P3E2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-21	IER5L	immediate early response 5 like		immediate early response 5-like	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)

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