AutismKB 2.0

Annotation Detail for EEPD1


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Basic Information Top
Gene Symbol:EEPD1 ( HSPC107,KIAA1706 )
Gene Full Name: endonuclease/exonuclease/phosphatase family domain containing 1
Band: 7p14.2
Quick LinksEntrez ID:80820; OMIM: NA; Uniprot ID:EEPD1_HUMAN; ENSEMBL ID: ENSG00000122547; HGNC ID: 22223
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus28 / 56401249
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult61 / 193912131
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor9 / 26384534
glioma3 / 10688328
head and neck tumor8 / 13630258
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia9 / 9725092
normal103 / 336030730
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal4 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone7 / 7165597
bone marrow1 / 4880120
brain43 / 110098939
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine12 / 23447251
kidney11 / 21177751
larynx2 / 2414582
liver2 / 2077439
lung6 / 33697417
lymph4 / 4427090
lymph node3 / 9161032
mammary gland14 / 15327191
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland1 / 2015549
skin1 / 2105744
spleen3 / 5395255
stomach15 / 96619155
testis7 / 33044221
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4666_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.01 ± 0.54
Basal Forebrain3.92 ± 0.56
Basal Part of Pons4.23 ± 0.69
Cerebellar Cortex3.62 ± 0.44
Cerebellar Nuclei4.2 ± 0.63
Claustrum3.68 ± 0.74
Epithalamus3.85 ± 1.03
Frontal Lobe3.88 ± 0.62
Globus Pallidus4.95 ± 0.42
Hypothalamus3.87 ± 0.65
Insula3.41 ± 0.59
Limbic Lobe3.86 ± 0.6
Mesencephalon4.02 ± 0.73
Myelencephalon4.03 ± 0.68
Occipital Lobe4.49 ± 0.56
Parietal Lobe4.1 ± 0.55
Pontine Tegmentum3.95 ± 0.55
Striatum4.58 ± 0.52
Subthalamus4.62 ± 0.22
Temporal Lobe3.87 ± 0.51
Thalamus4.22 ± 0.52
White Matter5.92 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310005P05RikCBCerebellum20.62
50.01
2310005P05RikCTXCerebral cortex57.88
46.32
2310005P05RikHIPHippocampal region27.88
41.63
2310005P05RikHPFHippocampal formation28.81
34.64
2310005P05RikHYHypothalamus7.38
7.26
2310005P05RikLSXLateral septal complex7.02
6.44
2310005P05RikMBMidbrain10.32
11.08
2310005P05RikMYMedulla10.64
12.73
2310005P05RikOLFOlfactory bulb76.57
83.28
2310005P05RikPPons5.11
6.85
2310005P05RikPALPallidum7.88
7.3
2310005P05RikRHPRetrohippocampal region29.94
26.81
2310005P05RiksAMYStriatum-like amygdalar nuclei17.65
15.13
2310005P05RikSTRStriatum31.95
24.67
2310005P05RikSTRdStriatum dorsal region41.01
31.91
2310005P05RikSTRvStriatum ventral region20.48
14.76
2310005P05RikTHThalamus15.92
18.54
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001712 20 117 136 DLLAEQQPHHLATAVPLTPR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018